Canonical Allele Identifier: CA385379273

Gene: MYO1A

Linked Data

• MyVariant Identifiers: chr12:g.57432610A>T (hg19) ; chr12:g.57038826A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57038826A>T , CM000674.2:g.57038826A>T	GRCh38
NC_000012.11:g.57432610A>T , CM000674.1:g.57432610A>T	GRCh37
NC_000012.10:g.55718877A>T	NCBI36
NG_012104.1:g.16284T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300119.8:c.1516T>A MANE Select	ENSP00000300119.3:p.Cys506Ser
ENST00000300119.7:c.1516T>A	ENSP00000300119.3:p.Cys506Ser
ENST00000442789.6:c.1516T>A	ENSP00000393392.2:p.Cys506Ser
ENST00000476795.1:n.413T>A
ENST00000554234.5:c.1030T>A	ENSP00000451033.1:p.Cys344Ser
NM_001256041.1:c.1516T>A	NP_001242970.1:p.Cys506Ser
NM_005379.3:c.1516T>A	NP_005370.1:p.Cys506Ser
XM_011538373.1:c.1516T>A	XP_011536675.1:p.Cys506Ser
XM_011538373.2:c.1516T>A	XP_011536675.1:p.Cys506Ser
NM_005379.4:c.1516T>A MANE Select	NP_005370.1:p.Cys506Ser
NM_001256041.2:c.1516T>A	NP_001242970.1:p.Cys506Ser