Canonical Allele Identifier: CA136016

Gene: MYO1A

Linked Data

• ClinVar Variation Id: 8148
• ClinVar RCV Id: RCV000038478 ; RCV000008625 ; RCV001703414
• dbSNP Id: rs55679042
• ExAC: 12:57437119 C / T
• gnomAD v2: 12-57437119-C-T
• gnomAD v3: 12-57043335-C-T
• gnomAD v4: 12-57043335-C-T
• MyVariant Identifiers: chr12:g.57437119C>T (hg19) ; chr12:g.57043335C>T (hg38)
• PubMed: PMID:12736868 ; PMID:24616153 ; PMID:25333069

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57043335C>T , CM000674.2:g.57043335C>T	GRCh38
NC_000012.11:g.57437119C>T , CM000674.1:g.57437119C>T	GRCh37
NC_000012.10:g.55723386C>T	NCBI36
NG_012104.1:g.11775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.916G>A MANE Select	ENSP00000300119.3:p.Val306Met
ENST00000300119.7:c.916G>A	ENSP00000300119.3:p.Val306Met
ENST00000442789.6:c.916G>A	ENSP00000393392.2:p.Val306Met
ENST00000492945.5:c.4G>A	ENSP00000452229.1:p.Val2Met
ENST00000554234.5:c.430G>A	ENSP00000451033.1:p.Val144Met
NM_001256041.1:c.916G>A	NP_001242970.1:p.Val306Met
NM_005379.3:c.916G>A	NP_005370.1:p.Val306Met
XM_011538373.1:c.916G>A	XP_011536675.1:p.Val306Met
XM_011538373.2:c.916G>A	XP_011536675.1:p.Val306Met
NM_005379.4:c.916G>A MANE Select	NP_005370.1:p.Val306Met
NM_001256041.2:c.916G>A	NP_001242970.1:p.Val306Met