Canonical Allele Identifier: CA6640550

Gene: MYO1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57047717C>A , CM000674.2:g.57047717C>A	GRCh38
NC_000012.11:g.57441501C>A , CM000674.1:g.57441501C>A	GRCh37
NC_000012.10:g.55727768C>A	NCBI36
NG_012104.1:g.7393G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005379.4:c.235G>T MANE Select	NP_005370.1:p.Ala79Ser
ENST00000300119.8:c.235G>T MANE Select	ENSP00000300119.3:p.Ala79Ser
NM_001256041.1:c.235G>T	NP_001242970.1:p.Ala79Ser
NM_001256041.2:c.235G>T	NP_001242970.1:p.Ala79Ser
NM_005379.3:c.235G>T	NP_005370.1:p.Ala79Ser
ENST00000300119.7:c.235G>T	ENSP00000300119.3:p.Ala79Ser
ENST00000433964.5:c.235G>T	ENSP00000400991.1:p.Ala79Ser
ENST00000442789.6:c.235G>T	ENSP00000393392.2:p.Ala79Ser
ENST00000492945.5:c.-21+2170G>T	ENSP00000452229.1:n.-21+2170G>T
ENST00000554234.5:c.-205G>T	ENSP00000451033.1:n.-205G>T
XM_011538373.1:c.235G>T	XP_011536675.1:p.Ala79Ser
XM_011538373.2:c.235G>T	XP_011536675.1:p.Ala79Ser