Canonical Allele Identifier: CA2619401047
Gene: MYO1A HGNC NCBI

Linked Data

gnomAD v4: 12-57037626-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57037628dup , CM000674.2:g.57037628dup GRCh38
NC_000012.11:g.57431412dup , CM000674.1:g.57431412dup GRCh37
NC_000012.10:g.55717679dup NCBI36
NG_012104.1:g.17483dup

Transcript Alleles

HGVS Amino-acid change
ENST00000300119.8:c.1976dup MANE Select ENSP00000300119.3:p.Val660GlyfsTer22
ENST00000300119.7:c.1976dup ENSP00000300119.3:p.Val660GlyfsTer22
ENST00000442789.6:c.1976dup ENSP00000393392.2:p.Val660GlyfsTer22
ENST00000554234.5:c.1490dup ENSP00000451033.1:p.Val498GlyfsTer22
NM_001256041.1:c.1976dup NP_001242970.1:p.Val660GlyfsTer22
NM_005379.3:c.1976dup NP_005370.1:p.Val660GlyfsTer22
XM_011538373.1:c.1976dup XP_011536675.1:p.Val660GlyfsTer22
XM_011538373.2:c.1976dup XP_011536675.1:p.Val660GlyfsTer22
NM_005379.4:c.1976dup MANE Select NP_005370.1:p.Val660GlyfsTer22
NM_001256041.2:c.1976dup NP_001242970.1:p.Val660GlyfsTer22
Search 100 bp 5'
Search 100 bp 3'