Canonical Allele Identifier: CA480384567

Gene: MYO1A

Linked Data

• MyVariant Identifiers: chr12:g.57431407G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57037623G>C , CM000674.2:g.57037623G>C	GRCh38
NC_000012.11:g.57431407G>C , CM000674.1:g.57431407G>C	GRCh37
NC_000012.10:g.55717674G>C	NCBI36
NG_012104.1:g.17487C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000300119.8:c.1980C>G MANE Select	ENSP00000300119.3:p.Val660=
ENST00000300119.7:c.1980C>G	ENSP00000300119.3:p.Val660=
ENST00000442789.6:c.1980C>G	ENSP00000393392.2:p.Val660=
ENST00000554234.5:c.1494C>G	ENSP00000451033.1:p.Val498=
NM_001256041.1:c.1980C>G	NP_001242970.1:p.Val660=
NM_005379.3:c.1980C>G	NP_005370.1:p.Val660=
XM_011538373.1:c.1980C>G	XP_011536675.1:p.Val660=
XM_011538373.2:c.1980C>G	XP_011536675.1:p.Val660=
NM_005379.4:c.1980C>G MANE Select	NP_005370.1:p.Val660=
NM_001256041.2:c.1980C>G	NP_001242970.1:p.Val660=