ENST00000549994.2 AVIL

Information
Transcript ID
ENST00000549994.2
Genome
hg38
Position
chr12:57,797,380-57,818,734
Strand
-
CDS length
2,460
Amino acid length
820
Gene symbol
AVIL
Gene type
protein-coding
Gene description
advillin
Gene Entrez Gene ID
10677
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 :
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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 :
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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 57,797,380 57,797,995
19 57,799,795 57,799,920
18 57,801,144 57,801,212
17 57,802,160 57,802,348
16 57,803,247 57,803,391
15 57,803,524 57,803,669
14 57,806,360 57,806,539
13 57,807,331 57,807,489
12 57,807,590 57,807,727
11 57,808,194 57,808,294
10 57,808,395 57,808,548
9 57,809,597 57,809,695
8 57,809,812 57,809,890
7 57,810,349 57,810,551
6 57,810,816 57,810,926
5 57,811,019 57,811,127
4 57,813,227 57,813,423
3 57,814,152 57,814,226
2 57,815,975 57,816,059
1 57,818,629 57,818,734
CDS
Exon number Type Start Stop
20 CDS 57,797,882 57,797,995
19 CDS 57,799,795 57,799,920
18 CDS 57,801,144 57,801,212
17 CDS 57,802,160 57,802,348
16 CDS 57,803,247 57,803,391
15 CDS 57,803,524 57,803,669
14 CDS 57,806,360 57,806,539
13 CDS 57,807,331 57,807,489
12 CDS 57,807,590 57,807,727
11 CDS 57,808,194 57,808,294
10 CDS 57,808,395 57,808,548
9 CDS 57,809,597 57,809,695
8 CDS 57,809,812 57,809,890
7 CDS 57,810,349 57,810,551
6 CDS 57,810,816 57,810,926
5 CDS 57,811,019 57,811,127
4 CDS 57,813,227 57,813,423
3 CDS 57,814,152 57,814,226
2 CDS 57,815,975 57,816,040
Other genome
Genome Chromosome Start End Links
hg19 chr12 58,191,163 58,212,517 Link
CDS sequence
ATGCCTCTGACCAGTGCCTTCAGGGCTGTGGACAACGACCCTGGGATCATTGTCTGGAGAATAGAGAAAATGGAGCTGGCGCTGGTGCCTGTGAGCGCCCACGGCAACTTCTATGAGGGGGACTGCTACGTCATCCTCTCGACCCGGAGAGTGGCCAGTCTCCTATCCCAGGACATCCACTTCTGGATCGGGAAGGACTCCTCCCAGGATGAGCAAAGCTGCGCAGCCATATATACCACACAGCTGGACGACTACCTGGGAGGCAGCCCTGTGCAGCACCGAGAGGTCCAGTACCATGAGTCAGACACTTTCCGTGGCTACTTCAAGCAGGGCATCATCTACAAGCAGGGGGGTGTCGCCTCTGGGATGAAGCACGTGGAGACCAATACCTACGACGTGAAGCGGCTGCTACATGTGAAAGGGAAAAGAAACATCAGGGCTACCGAGGTGGAAATGAGCTGGGACAGTTTCAACCGAGGTGATGTCTTCTTGCTGGACCTTGGGAAAGTCATCATCCAATGGAATGGCCCAGAGAGCAACAGTGGGGAGCGCCTGAAGGCTATGCTTCTGGCAAAGGATATTCGAGACAGGGAGCGAGGGGGCCGTGCTAAAATAGGAGTGATCGAGGGAGACAAGGAGGCAGCCAGCCCAGAGCTGATGAAGGTCCTTCAGGACACCCTTGGCCGACGCTCCATTATCAAGCCTACAGTCCCTGATGAGATCATAGATCAGAAGCAGAAATCAACTATCATGTTGTATCATATCTCAGATTCAGCTGGGCAGCTGGCAGTCACAGAGGTAGCAACAAGGCCTCTGGTCCAGGACTTACTGAACCATGATGACTGCTACATCCTGGACCAAAGTGGAACCAAAATCTACGTGTGGAAAGGAAAAGGAGCCACAAAGGCTGAAAAACAGGCAGCCATGTCTAAAGCGCTGGGCTTCATCAAGATGAAGAGCTACCCCAGCAGCACCAATGTGGAGACCGTCAACGATGGTGCTGAGTCGGCCATGTTCAAGCAGCTGTTCCAGAAGTGGTCAGTAAAGGACCAGACCATGGGCCTGGGGAAAACGTTCAGCATTGGTAAAATTGCTAAAGTTTTCCAGGATAAATTTGATGTGACTCTGCTACACACCAAGCCAGAGGTAGCTGCCCAGGAAAGAATGGTCGATGATGGCAACGGAAAAGTTGAGGTCTGGAGAATTGAGAACCTGGAGCTGGTCCCTGTGGAGTATCAATGGTATGGCTTCTTTTATGGGGGAGACTGTTATCTGGTCCTCTACACATACGAGGTAAATGGGAAGCCACATCACATCTTGTACATCTGGCAGGGCCGCCACGCCTCACAGGATGAGCTGGCAGCCTCAGCATACCAGGCAGTGGAGGTGGATCGGCAGTTTGATGGGGCTGCTGTGCAGGTTCGAGTCAGGATGGGAACGGAGCCACGCCACTTCATGGCCATCTTCAAAGGGAAGCTAGTTATCTTTGAGGGTGGGACTTCCAGGAAGGGAAATGCCGAGCCTGACCCTCCAGTAAGACTCTTCCAAATTCATGGAAATGACAAATCTAACACCAAAGCAGTGGAAGTTCCAGCCTTTGCCTCCTCCCTAAACTCCAATGATGTCTTTCTGCTGCGAACTCAGGCAGAGCACTACCTGTGGTATGGCAAGGGGTCTAGTGGGGATGAGCGGGCAATGGCTAAGGAGCTGGCCAGCCTTCTCTGTGATGGCAGCGAGAACACTGTGGCCGAGGGCCAGGAGCCAGCCGAGTTCTGGGACCTACTGGGAGGGAAAACTCCCTATGCCAATGATAAAAGACTTCAGCAGGAAATCCTAGATGTCCAGTCTCGTCTCTTTGAATGTTCCAATAAGACCGGCCAATTCGTTGTCACTGAGATCACAGACTTCACCCAGGATGACCTGAACCCTACTGACGTGATGCTCCTAGATACCTGGGACCAGGTGTTCTTGTGGATTGGGGCTGAGGCCAATGCCACGGAGAAGGAGAGTGCCCTTGCCACAGCACAGCAGTACCTGCACACTCACCCCAGCGGCCGAGATCCCGACACACCAATCCTGATCATTAAGCAGGGGTTTGAGCCTCCCATCTTCACAGGCTGGTTCCTAGCCTGGGACCCTAACATTTGGAGTGCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCTGACATGAAGAATGCAACCCTCTCCCTGAATTCTAATGACAGTGAGCCAAAATATTACCCTATAGCAGTTCTGTTGAAAAACCAGAATCAGGAGCTGCCTGAGGATGTAAACCCTGCCAAAAAGGAGAATTACCTCTCTGAACAGGACTTTGTGTCTGTGTTTGGCATCACAAGAGGGCAATTTGCAGCTCTGCCTGGCTGGAAACAGCTCCAAATGAAGAAAGAAAAGGGGCTTTTCTAA
Amino sequence
MPLTSAFRAVDNDPGIIVWRIEKMELALVPVSAHGNFYEGDCYVILSTRRVASLLSQDIHFWIGKDSSQDEQSCAAIYTTQLDDYLGGSPVQHREVQYHESDTFRGYFKQGIIYKQGGVASGMKHVETNTYDVKRLLHVKGKRNIRATEVEMSWDSFNRGDVFLLDLGKVIIQWNGPESNSGERLKAMLLAKDIRDRERGGRAKIGVIEGDKEAASPELMKVLQDTLGRRSIIKPTVPDEIIDQKQKSTIMLYHISDSAGQLAVTEVATRPLVQDLLNHDDCYILDQSGTKIYVWKGKGATKAEKQAAMSKALGFIKMKSYPSSTNVETVNDGAESAMFKQLFQKWSVKDQTMGLGKTFSIGKIAKVFQDKFDVTLLHTKPEVAAQERMVDDGNGKVEVWRIENLELVPVEYQWYGFFYGGDCYLVLYTYEVNGKPHHILYIWQGRHASQDELAASAYQAVEVDRQFDGAAVQVRVRMGTEPRHFMAIFKGKLVIFEGGTSRKGNAEPDPPVRLFQIHGNDKSNTKAVEVPAFASSLNSNDVFLLRTQAEHYLWYGKGSSGDERAMAKELASLLCDGSENTVAEGQEPAEFWDLLGGKTPYANDKRLQQEILDVQSRLFECSNKTGQFVVTEITDFTQDDLNPTDVMLLDTWDQVFLWIGAEANATEKESALATAQQYLHTHPSGRDPDTPILIIKQGFEPPIFTGWFLAWDPNIWSAGKTYEQLKEELGDAAAIMRITADMKNATLSLNSNDSEPKYYPIAVLLKNQNQELPEDVNPAKKENYLSEQDFVSVFGITRGQFAALPGWKQLQMKKEKGLF*