Canonical Allele Identifier: CA136002

Gene: MYO1A

Linked Data

• ClinVar Variation Id: 8150
• ClinVar RCV Id: RCV000008627 ; RCV000038471
• dbSNP Id: rs33962952
• ExAC: 12:57431402 C / T
• gnomAD v2: 12-57431402-C-T
• gnomAD v3: 12-57037618-C-T
• gnomAD v4: 12-57037618-C-T
• MyVariant Identifiers: chr12:g.57431402C>T (hg19) ; chr12:g.57037618C>T (hg38)
• PubMed: PMID:607841 ; PMID:12736868 ; PMID:24616153 ; PMID:25333069

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