Canonical Allele Identifier: CA136002
Gene: MYO1A HGNC NCBI

Linked Data

ClinVar Variation Id: 8150
dbSNP Id: rs33962952

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57037618C>T , CM000674.2:g.57037618C>T GRCh38
NC_000012.11:g.57431402C>T , CM000674.1:g.57431402C>T GRCh37
NC_000012.10:g.55717669C>T NCBI36
NG_012104.1:g.17492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300119.8:c.1985G>A MANE Select ENSP00000300119.3:p.Gly662Glu
ENST00000300119.7:c.1985G>A ENSP00000300119.3:p.Gly662Glu
ENST00000442789.6:c.1985G>A ENSP00000393392.2:p.Gly662Glu
ENST00000554234.5:c.1499G>A ENSP00000451033.1:p.Gly500Glu
NM_001256041.1:c.1985G>A NP_001242970.1:p.Gly662Glu
NM_005379.3:c.1985G>A NP_005370.1:p.Gly662Glu
XM_011538373.1:c.1985G>A XP_011536675.1:p.Gly662Glu
XM_011538373.2:c.1985G>A XP_011536675.1:p.Gly662Glu
NM_005379.4:c.1985G>A MANE Select NP_005370.1:p.Gly662Glu
NM_001256041.2:c.1985G>A NP_001242970.1:p.Gly662Glu