ENST00000289547.8 NPC1L1
Information
- Transcript ID
- ENST00000289547.8
- Genome
- hg19
- Position
- chr7:44,552,134-44,580,914
- Strand
- -
- CDS length
- 4,080
- Amino acid length
- 1,360
- Gene symbol
- NPC1L1
- Gene type
- protein-coding
- Gene description
- NPC1 like intracellular cholesterol transporter 1
- Gene Entrez Gene ID
- 29881
Variants
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
Exon
| Exon number | Start | Stop |
|---|---|---|
| 20 | 44,552,134 | 44,553,248 |
| 19 | 44,555,402 | 44,555,564 |
| 18 | 44,555,683 | 44,555,796 |
| 17 | 44,556,302 | 44,556,533 |
| 16 | 44,556,806 | 44,556,956 |
| 15 | 44,558,185 | 44,558,265 |
| 14 | 44,560,364 | 44,560,419 |
| 13 | 44,560,591 | 44,560,717 |
| 12 | 44,561,311 | 44,561,435 |
| 11 | 44,561,651 | 44,561,841 |
| 10 | 44,571,354 | 44,571,443 |
| 9 | 44,571,679 | 44,571,816 |
| 8 | 44,573,030 | 44,573,157 |
| 7 | 44,573,338 | 44,573,452 |
| 6 | 44,574,046 | 44,574,228 |
| 5 | 44,575,439 | 44,575,567 |
| 4 | 44,575,855 | 44,576,027 |
| 3 | 44,576,441 | 44,576,541 |
| 2 | 44,578,416 | 44,579,941 |
| 1 | 44,580,805 | 44,580,914 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 20 | CDS | 44,553,046 | 44,553,248 |
| 19 | CDS | 44,555,402 | 44,555,564 |
| 18 | CDS | 44,555,683 | 44,555,796 |
| 17 | CDS | 44,556,302 | 44,556,533 |
| 16 | CDS | 44,556,806 | 44,556,956 |
| 15 | CDS | 44,558,185 | 44,558,265 |
| 14 | CDS | 44,560,364 | 44,560,419 |
| 13 | CDS | 44,560,591 | 44,560,717 |
| 12 | CDS | 44,561,311 | 44,561,435 |
| 11 | CDS | 44,561,651 | 44,561,841 |
| 10 | CDS | 44,571,354 | 44,571,443 |
| 9 | CDS | 44,571,679 | 44,571,816 |
| 8 | CDS | 44,573,030 | 44,573,157 |
| 7 | CDS | 44,573,338 | 44,573,452 |
| 6 | CDS | 44,574,046 | 44,574,228 |
| 5 | CDS | 44,575,439 | 44,575,567 |
| 4 | CDS | 44,575,855 | 44,576,027 |
| 3 | CDS | 44,576,441 | 44,576,541 |
| 2 | CDS | 44,578,416 | 44,579,941 |
| 1 | CDS | 44,580,805 | 44,580,858 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr7 | 44,512,535 | 44,541,315 | Link |
CDS sequence
ATGGCGGAGGCCGGCCTGAGGGGCTGGCTGCTGTGGGCCCTGCTCCTGCGCTTGGCCCAGAGTGAGCCTTACACAACCATCCACCAGCCTGGCTACTGCGCCTTCTATGACGAATGTGGGAAGAACCCAGAGCTGTCTGGAAGCCTCATGACACTCTCCAACGTGTCCTGCCTGTCCAACACGCCGGCCCGCAAGATCACAGGTGATCACCTGATCCTATTACAGAAGATCTGCCCCCGCCTCTACACCGGCCCCAACACCCAAGCCTGCTGCTCCGCCAAGCAGCTGGTATCACTGGAAGCGAGTCTGTCGATCACCAAGGCCCTCCTCACCCGCTGCCCAGCCTGCTCTGACAATTTTGTGAACCTGCACTGCCACAACACGTGCAGCCCCAATCAGAGCCTCTTCATCAATGTGACCCGCGTGGCCCAGCTAGGGGCTGGACAACTCCCAGCTGTGGTGGCCTATGAGGCCTTCTACCAGCATAGCTTTGCCGAGCAGAGCTATGACTCCTGCAGCCGTGTGCGCGTCCCTGCAGCTGCCACGCTGGCTGTGGGCACCATGTGTGGCGTGTATGGCTCTGCCCTTTGCAATGCCCAGCGCTGGCTCAACTTCCAGGGAGACACAGGCAATGGTCTGGCCCCACTGGACATCACCTTCCACCTCTTGGAGCCTGGCCAGGCCGTGGGGAGTGGGATTCAGCCTCTGAATGAGGGGGTTGCACGTTGCAATGAGTCCCAAGGTGACGACGTGGCGACCTGCTCCTGCCAAGACTGTGCTGCATCCTGTCCTGCCATAGCCCGCCCCCAGGCCCTCGACTCCACCTTCTACCTGGGCCAGATGCCGGGCAGTCTGGTCCTCATCATCATCCTCTGCTCTGTCTTCGCTGTGGTCACCATCCTGCTTGTGGGATTCCGTGTGGCCCCCGCCAGGGACAAAAGCAAGATGGTGGACCCCAAGAAGGGCACCAGCCTCTCTGACAAGCTCAGCTTCTCCACCCACACCCTCCTTGGCCAGTTCTTCCAGGGCTGGGGCACGTGGGTGGCTTCGTGGCCTCTGACCATCTTGGTGCTATCTGTCATCCCGGTGGTGGCCTTGGCAGCGGGCCTGGTCTTTACAGAACTCACTACGGACCCCGTGGAGCTGTGGTCGGCCCCCAACAGCCAAGCCCGGAGTGAGAAAGCTTTCCATGACCAGCATTTCGGCCCCTTCTTCCGAACCAACCAGGTGATCCTGACGGCTCCTAACCGGTCCAGCTACAGGTATGACTCTCTGCTGCTGGGGCCCAAGAACTTCAGCGGAATCCTGGACCTGGACTTGCTGCTGGAGCTGCTAGAGCTGCAGGAGAGGCTGCGGCACCTCCAGGTATGGTCGCCCGAAGCACAGCGCAACATCTCCCTGCAGGACATCTGCTACGCCCCCCTCAATCCGGACAATACCAGTCTCTACGACTGCTGCATCAACAGCCTCCTGCAGTATTTCCAGAACAACCGCACGCTCCTGCTGCTCACAGCCAACCAGACACTGATGGGGCAGACCTCCCAAGTCGACTGGAAGGACCATTTTCTGTACTGTGCCAATGCCCCGCTCACCTTCAAGGATGGCACAGCCCTGGCCCTGAGCTGCATGGCTGACTACGGGGCCCCTGTCTTCCCCTTCCTTGCCATTGGGGGGTACAAAGGAAAGGACTATTCTGAGGCAGAGGCCCTGATCATGACGTTCTCCCTCAACAATTACCCTGCCGGGGACCCCCGTCTGGCCCAGGCCAAGCTGTGGGAGGAGGCCTTCTTAGAGGAAATGCGAGCCTTCCAGCGTCGGATGGCTGGCATGTTCCAGGTCACGTTCATGGCTGAGCGCTCTCTGGAAGACGAGATCAATCGCACCACAGCTGAAGACCTGCCCATCTTTGCCACCAGCTACATTGTCATATTCCTGTACATCTCTCTGGCCCTGGGCAGCTATTCCAGCTGGAGCCGAGTGATGGTGGACTCCAAGGCCACGCTGGGCCTCGGCGGGGTGGCCGTGGTCCTGGGAGCAGTCATGGCTGCCATGGGCTTCTTCTCCTACTTGGGTATCCGCTCCTCCCTGGTCATCCTGCAAGTGGTTCCTTTCCTGGTGCTGTCCGTGGGGGCTGATAACATCTTCATCTTTGTTCTCGAGTACCAGAGGCTGCCCCGGAGGCCTGGGGAGCCACGAGAGGTCCACATTGGGCGAGCCCTAGGCAGGGTGGCTCCCAGCATGCTGTTGTGCAGCCTCTCTGAGGCCATCTGCTTCTTCCTAGGGGCCCTGACCCCCATGCCAGCTGTGCGGACCTTTGCCCTGACCTCTGGCCTTGCAGTGATCCTTGACTTCCTCCTGCAGATGTCAGCCTTTGTGGCCCTGCTCTCCCTGGACAGCAAGAGGCAGGAGGCCTCCCGGTTGGACGTCTGCTGCTGTGTCAAGCCCCAGGAGCTGCCCCCGCCTGGCCAGGGAGAGGGGCTCCTGCTTGGCTTCTTCCAAAAGGCTTATGCCCCCTTCCTGCTGCACTGGATCACTCGAGGTGTTGTGCTGCTGCTGTTTCTCGCCCTGTTCGGAGTGAGCCTCTACTCCATGTGCCACATCAGCGTGGGACTGGACCAGGAGCTGGCCCTGCCCAAGGACTCGTACCTGCTTGACTATTTCCTCTTTCTGAACCGCTACTTCGAGGTGGGGGCCCCGGTGTACTTTGTTACCACCTTGGGCTACAACTTCTCCAGCGAGGCTGGGATGAATGCCATCTGCTCCAGTGCAGGCTGCAACAACTTCTCCTTCACCCAGAAGATCCAGTATGCCACAGAGTTCCCTGAGCAGTCTTACCTGGCCATCCCTGCCTCCTCCTGGGTGGATGACTTCATTGACTGGCTGACCCCGTCCTCCTGCTGCCGCCTTTATATATCTGGCCCCAATAAGGACAAGTTCTGCCCCTCGACCGTCAACTCTCTGAACTGCCTAAAGAACTGCATGAGCATCACGATGGGCTCTGTGAGGCCCTCGGTGGAGCAGTTCCATAAGTATCTTCCCTGGTTCCTGAACGACCGGCCCAACATCAAATGTCCCAAAGGCGGCCTGGCAGCATACAGCACCTCTGTGAACTTGACTTCAGATGGCCAGGTTTTAGACACAGTTGCCATTCTGTCACCCAGGCTGGAGTACAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAACCTCCAGGTTCATGGCCTATCACAAGCCCCTGAAAAACTCACAGGATTACACAGAAGCTCTGCGGGCAGCTCGAGAGCTGGCAGCCAACATCACTGCTGACCTGCGGAAAGTGCCTGGAACAGACCCGGCTTTTGAGGTCTTCCCCTACACGATCACCAATGTGTTTTATGAGCAGTACCTGACCATCCTCCCTGAGGGGCTCTTCATGCTCAGCCTCTGCCTTGTGCCCACCTTCGCTGTCTCCTGCCTCCTGCTGGGCCTGGACCTGCGCTCCGGCCTCCTCAACCTGCTCTCCATTGTCATGATCCTCGTGGACACTGTCGGCTTCATGGCCCTGTGGGGCATCAGTTACAATGCTGTGTCCCTCATCAACCTGGTCTCGGCGGTGGGCATGTCTGTGGAGTTTGTGTCCCACATTACCCGCTCCTTTGCCATCAGCACCAAGCCCACCTGGCTGGAGAGGGCCAAAGAGGCCACCATCTCTATGGGAAGTGCGGTGTTTGCAGGTGTGGCCATGACCAACCTGCCTGGCATCCTTGTCCTGGGCCTCGCCAAGGCCCAGCTCATTCAGATCTTCTTCTTCCGCCTCAACCTCCTGATCACTCTGCTGGGCCTGCTGCATGGCTTGGTCTTCCTGCCCGTCATCCTCAGCTACGTGGGGCCTGACGTTAACCCGGCTCTGGCACTGGAGCAGAAGCGGGCTGAGGAGGCGGTGGCAGCAGTCATGGTGGCCTCTTGCCCAAATCACCCCTCCCGAGTCTCCACAGCTGACAACATCTATGTCAACCACAGCTTTGAAGGTTCTATCAAAGGTGCTGGTGCCATCAGCAACTTCTTGCCCAACAATGGGCGGCAGTTCTGA
Amino sequence
MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPELSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEASLSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFYQHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDITFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTFYLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTHTLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARSEKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQERLRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQTLMGQTSQVDWKDHFLYCANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSEAEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEMRAFQRRMAGMFQVTFMAERSLEDEINRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAVVLGAVMAAMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQRLPRRPGEPREVHIGRALGRVAPSMLLCSLSEAICFFLGALTPMPAVRTFALTSGLAVILDFLLQMSAFVALLSLDSKRQEASRLDVCCCVKPQELPPPGQGEGLLLGFFQKAYAPFLLHWITRGVVLLLFLALFGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPVYFVTTLGYNFSSEAGMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDWLTPSSCCRLYISGPNKDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRPNIKCPKGGLAAYSTSVNLTSDGQVLDTVAILSPRLEYSGTISAHCNLYLLDSTSRFMAYHKPLKNSQDYTEALRAARELAANITADLRKVPGTDPAFEVFPYTITNVFYEQYLTILPEGLFMLSLCLVPTFAVSCLLLGLDLRSGLLNLLSIVMILVDTVGFMALWGISYNAVSLINLVSAVGMSVEFVSHITRSFAISTKPTWLERAKEATISMGSAVFAGVAMTNLPGILVLGLAKAQLIQIFFFRLNLLITLLGLLHGLVFLPVILSYVGPDVNPALALEQKRAEEAVAAVMVASCPNHPSRVSTADNIYVNHSFEGSIKGAGAISNFLPNNGRQF*