ENST00000366553.3 CHML

Information
Transcript ID
ENST00000366553.3
Genome
hg38
Position
chr1:241,628,851-241,640,369
Strand
-
CDS length
1,971
Amino acid length
657
Gene symbol
CHML
Gene type
protein-coding
Gene description
CHM like Rab escort protein
Gene Entrez Gene ID
1122
Variants

Display target variant


Search Word
Target data :
MGeND data only
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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
2 241,628,851 241,636,073
1 241,639,882 241,640,369
CDS
Exon number Type Start Stop
2 CDS 241,633,796 241,635,766
Other genome
Genome Chromosome Start End Links
hg19 chr1 241,792,153 241,803,671 Link
CDS sequence
ATGGCGGACAATCTTCCCACAGAGTTTGATGTGGTTATAATAGGGACAGGTTTGCCCGAATCCATCCTTGCAGCTGCATGTTCAAGAAGTGGTCAGAGGGTTCTGCATATTGATTCAAGAAGCTACTATGGAGGAAACTGGGCTAGTTTCAGCTTTTCAGGATTGCTATCCTGGTTGAAGGAGTATCAGCAAAACAATGACATTGGGGAAGAAAGTACTGTTGTATGGCAGGACCTGATCCATGAAACAGAAGAAGCCATCACTCTTCGCAAGAAGGATGAAACTATTCAACACACAGAAGCTTTTTGCTACGCCAGTCAGGATATGGAGGACAACGTTGAAGAGATTGGTGCTCTGCAGAAAAATCCTTCTTTGGGGGTGTCTAATACCTTCACTGAAGTTCTGGATTCTGCATTACCTGAAGAAAGCCAGTTATCGTATTTTAATAGCGACGAAATGCCTGCAAAACACACTCAGAAAAGTGATACAGAGATTTCACTAGAAGTAACTGATGTAGAGGAATCAGTGGAGAAGGAAAAGTATTGTGGAGATAAAACTTGTATGCACACAGTTTCAGATAAAGATGGAGATAAAGATGAAAGCAAATCTACAGTAGAAGATAAGGCCGATGAACCAATTAGAAATAGGATTACTTACTCTCAAATAGTTAAAGAAGGCAGGAGGTTTAATATTGATTTGGTGTCAAAACTGCTGTATTCTCAAGGATTGCTAATTGATCTTTTAATCAAATCAGATGTTAGTCGTTATGTAGAATTTAAAAATGTCACTAGGATTCTTGCATTTCGGGAAGGAAAGGTAGAACAAGTTCCTTGTTCCAGAGCAGATGTCTTTAATAGCAAGGAACTCACCATGGTTGAAAAGAGGATGCTAATGAAATTTCTCACATTTTGTTTAGAGTATGAACAACATCCTGATGAATACCAAGCTTTCAGGCAGTGTTCATTTTCAGAATACTTAAAAACTAAAAAACTAACTCCCAACCTTCAACATTTTGTACTGCACTCAATTGCAATGACATCAGAATCATCTTGCACTACAATAGATGGTCTTAACGCAACTAAAAACTTCCTTCAGTGTCTCGGACGGTTTGGCAACACCCCCTTTTTATTTCCCTTGTATGGCCAAGGAGAAATTCCCCAGGGTTTCTGTAGGATGTGTGCAGTTTTTGGTGGAATCTATTGTCTTCGTCATAAAGTACAATGCTTTGTAGTCGACAAAGAATCTGGACGATGTAAAGCAATTATAGATCACTTTGGTCAAAGAATAAATGCTAAATATTTTATTGTGGAAGACAGTTACCTTTCTGAGGAAACATGCTCAAATGTGCAGTATAAGCAGATCTCTAGGGCAGTACTCATTACAGATCAGTCTATACTAAAGACAGATTTAGATCAGCAGACTTCCATTCTGATAGTTCCTCCAGCAGAGCCAGGAGCTTGTGCTGTACGGGTCACAGAATTATGTTCTTCAACCATGACATGCATGAAGGACACCTATCTGGTACATTTGACATGTTCATCTTCTAAAACAGCAAGAGAAGACTTAGAATCAGTGGTGAAGAAATTATTCACTCCGTATACTGAAACAGAAATAAACGAGGAAGAACTTACAAAGCCAAGACTCTTGTGGGCTCTTTATTTTAATATGAGAGATTCCTCGGGAATCAGCAGAAGCTCGTATAATGGCTTGCCTTCCAATGTTTATGTCTGCTCTGGGCCTGACTGTGGCCTGGGAAATGAGCATGCTGTCAAGCAAGCTGAAACACTTTTCCAGGAGATCTTTCCAACTGAAGAATTCTGCCCTCCACCTCCAAATCCAGAAGACATTATCTTTGATGGTGATGATAAGCAGCCAGAGGCTCCTGGAACCAATAATGTAGTAATGGCCAAACTAGAATCCTCTGAGGAAAGCAAAAACCTAGAAAGCCCAGAGAAGCACCTTCAAAATTAG
Amino sequence
MADNLPTEFDVVIIGTGLPESILAAACSRSGQRVLHIDSRSYYGGNWASFSFSGLLSWLKEYQQNNDIGEESTVVWQDLIHETEEAITLRKKDETIQHTEAFCYASQDMEDNVEEIGALQKNPSLGVSNTFTEVLDSALPEESQLSYFNSDEMPAKHTQKSDTEISLEVTDVEESVEKEKYCGDKTCMHTVSDKDGDKDESKSTVEDKADEPIRNRITYSQIVKEGRRFNIDLVSKLLYSQGLLIDLLIKSDVSRYVEFKNVTRILAFREGKVEQVPCSRADVFNSKELTMVEKRMLMKFLTFCLEYEQHPDEYQAFRQCSFSEYLKTKKLTPNLQHFVLHSIAMTSESSCTTIDGLNATKNFLQCLGRFGNTPFLFPLYGQGEIPQGFCRMCAVFGGIYCLRHKVQCFVVDKESGRCKAIIDHFGQRINAKYFIVEDSYLSEETCSNVQYKQISRAVLITDQSILKTDLDQQTSILIVPPAEPGACAVRVTELCSSTMTCMKDTYLVHLTCSSSKTAREDLESVVKKLFTPYTETEINEEELTKPRLLWALYFNMRDSSGISRSSYNGLPSNVYVCSGPDCGLGNEHAVKQAETLFQEIFPTEEFCPPPPNPEDIIFDGDDKQPEAPGTNNVVMAKLESSEESKNLESPEKHLQN*