Canonical Allele Identifier: CA385377369

Gene: MYO1A

Linked Data

• MyVariant Identifiers: chr12:g.57431402C>A (hg19) ; chr12:g.57037618C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000300119.8:c.1985G>T MANE Select	ENSP00000300119.3:p.Gly662Val
ENST00000300119.7:c.1985G>T	ENSP00000300119.3:p.Gly662Val
ENST00000442789.6:c.1985G>T	ENSP00000393392.2:p.Gly662Val
ENST00000554234.5:c.1499G>T	ENSP00000451033.1:p.Gly500Val
NM_001256041.1:c.1985G>T	NP_001242970.1:p.Gly662Val
NM_005379.3:c.1985G>T	NP_005370.1:p.Gly662Val
XM_011538373.1:c.1985G>T	XP_011536675.1:p.Gly662Val
XM_011538373.2:c.1985G>T	XP_011536675.1:p.Gly662Val
NM_005379.4:c.1985G>T MANE Select	NP_005370.1:p.Gly662Val
NM_001256041.2:c.1985G>T	NP_001242970.1:p.Gly662Val