Canonical Allele Identifier: CA341844201

Gene: ATP1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.116389685A>G , CM000663.2:g.116389685A>G	GRCh38
NC_000001.10:g.116932307A>G , CM000663.1:g.116932307A>G	GRCh37
NC_000001.9:g.116733830A>G	NCBI36
NG_047036.1:g.22501A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000701.8:c.1001A>G MANE Select	NP_000692.2:p.Glu334Gly
ENST00000295598.10:c.1001A>G MANE Select	ENSP00000295598.5:p.Glu334Gly
NM_000701.7:c.1001A>G	NP_000692.2:p.Glu334Gly
NM_001160233.1:c.1001A>G	NP_001153705.1:p.Glu334Gly
NM_001160233.2:c.1001A>G	NP_001153705.1:p.Glu334Gly
NM_001160234.1:c.908A>G	NP_001153706.1:p.Glu303Gly
NM_001160234.2:c.908A>G	NP_001153706.1:p.Glu303Gly
ENST00000295598.9:c.1001A>G	ENSP00000295598.5:p.Glu334Gly
ENST00000369496.8:c.908A>G	ENSP00000358508.4:p.Glu303Gly
ENST00000491156.1:n.411A>G
ENST00000537345.5:c.1001A>G	ENSP00000445306.1:p.Glu334Gly
XM_006710655.2:c.908A>G	XP_006710718.1:p.Glu303Gly
XM_017001360.1:c.908A>G	XP_016856849.1:p.Glu303Gly
XM_017001361.1:c.908A>G	XP_016856850.1:p.Glu303Gly
XR_002956654.1:n.1527A>G