Canonical Allele Identifier: CA385377373

Gene: MYO1A

Linked Data

• MyVariant Identifiers: chr12:g.57431403C>T (hg19) ; chr12:g.57037619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57037619C>T , CM000674.2:g.57037619C>T	GRCh38
NC_000012.11:g.57431403C>T , CM000674.1:g.57431403C>T	GRCh37
NC_000012.10:g.55717670C>T	NCBI36
NG_012104.1:g.17491G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300119.8:c.1984G>A MANE Select	ENSP00000300119.3:p.Gly662Arg
ENST00000300119.7:c.1984G>A	ENSP00000300119.3:p.Gly662Arg
ENST00000442789.6:c.1984G>A	ENSP00000393392.2:p.Gly662Arg
ENST00000554234.5:c.1498G>A	ENSP00000451033.1:p.Gly500Arg
NM_001256041.1:c.1984G>A	NP_001242970.1:p.Gly662Arg
NM_005379.3:c.1984G>A	NP_005370.1:p.Gly662Arg
XM_011538373.1:c.1984G>A	XP_011536675.1:p.Gly662Arg
XM_011538373.2:c.1984G>A	XP_011536675.1:p.Gly662Arg
NM_005379.4:c.1984G>A MANE Select	NP_005370.1:p.Gly662Arg
NM_001256041.2:c.1984G>A	NP_001242970.1:p.Gly662Arg