Canonical Allele Identifier: CA1025259

Gene: ATP1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.116390750G>A , CM000663.2:g.116390750G>A	GRCh38
NC_000001.10:g.116933372G>A , CM000663.1:g.116933372G>A	GRCh37
NC_000001.9:g.116734895G>A	NCBI36
NG_047036.1:g.23566G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000701.8:c.1223-32G>A MANE Select	NP_000692.2:n.1223-32G>A
ENST00000295598.10:c.1223-32G>A MANE Select	ENSP00000295598.5:n.1223-32G>A
NM_000701.7:c.1223-32G>A	NP_000692.2:n.1223-32G>A
NM_001160233.1:c.1223-32G>A	NP_001153705.1:n.1223-32G>A
NM_001160233.2:c.1223-32G>A	NP_001153705.1:n.1223-32G>A
NM_001160234.1:c.1130-32G>A	NP_001153706.1:n.1130-32G>A
NM_001160234.2:c.1130-32G>A	NP_001153706.1:n.1130-32G>A
ENST00000295598.9:c.1223-32G>A	ENSP00000295598.5:n.1223-32G>A
ENST00000369496.8:c.1130-32G>A	ENSP00000358508.4:n.1130-32G>A
ENST00000537345.5:c.1223-32G>A	ENSP00000445306.1:n.1223-32G>A
XM_006710655.2:c.1130-32G>A	XP_006710718.1:n.1130-32G>A
XM_017001360.1:c.1130-32G>A	XP_016856849.1:n.1130-32G>A
XM_017001361.1:c.1130-32G>A	XP_016856850.1:n.1130-32G>A
XR_002956654.1:n.1749-32G>A