Canonical Allele Identifier: CA385383351

Gene: MYO1A

Linked Data

• MyVariant Identifiers: chr12:g.57435230A>C (hg19) ; chr12:g.57041446A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57041446A>C , CM000674.2:g.57041446A>C	GRCh38
NC_000012.11:g.57435230A>C , CM000674.1:g.57435230A>C	GRCh37
NC_000012.10:g.55721497A>C	NCBI36
NG_012104.1:g.13664T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.1150T>G MANE Select	ENSP00000300119.3:p.Phe384Val
ENST00000300119.7:c.1150T>G	ENSP00000300119.3:p.Phe384Val
ENST00000442789.6:c.1150T>G	ENSP00000393392.2:p.Phe384Val
ENST00000554234.5:c.664T>G	ENSP00000451033.1:p.Phe222Val
NM_001256041.1:c.1150T>G	NP_001242970.1:p.Phe384Val
NM_005379.3:c.1150T>G	NP_005370.1:p.Phe384Val
XM_011538373.1:c.1150T>G	XP_011536675.1:p.Phe384Val
XM_011538373.2:c.1150T>G	XP_011536675.1:p.Phe384Val
NM_005379.4:c.1150T>G MANE Select	NP_005370.1:p.Phe384Val
NM_001256041.2:c.1150T>G	NP_001242970.1:p.Phe384Val