Canonical Allele Identifier: CA480239711

Gene: MYO1A

Linked Data

• dbSNP Id: rs121909305
• gnomAD v4: 12-57047675-G-T
• MyVariant Identifiers: chr12:g.57441459G>T (hg19) ; chr12:g.57047675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57047675G>T , CM000674.2:g.57047675G>T	GRCh38
NC_000012.11:g.57441459G>T , CM000674.1:g.57441459G>T	GRCh37
NC_000012.10:g.55727726G>T	NCBI36
NG_012104.1:g.7435C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000300119.8:c.277C>A MANE Select	ENSP00000300119.3:p.Arg93=
ENST00000300119.7:c.277C>A	ENSP00000300119.3:p.Arg93=
ENST00000433964.5:c.277C>A	ENSP00000400991.1:p.Arg93=
ENST00000442789.6:c.277C>A	ENSP00000393392.2:p.Arg93=
ENST00000492945.5:c.-21+2212C>A	ENSP00000452229.1:n.-21+2212C>A
ENST00000554234.5:c.-163C>A	ENSP00000451033.1:n.-163C>A
NM_001256041.1:c.277C>A	NP_001242970.1:p.Arg93=
NM_005379.3:c.277C>A	NP_005370.1:p.Arg93=
XM_011538373.1:c.277C>A	XP_011536675.1:p.Arg93=
XM_011538373.2:c.277C>A	XP_011536675.1:p.Arg93=
NM_005379.4:c.277C>A MANE Select	NP_005370.1:p.Arg93=
NM_001256041.2:c.277C>A	NP_001242970.1:p.Arg93=