Canonical Allele Identifier: CA341840480

Gene: ATP1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.116384802T>G , CM000663.2:g.116384802T>G	GRCh38
NC_000001.10:g.116927424T>G , CM000663.1:g.116927424T>G	GRCh37
NC_000001.9:g.116728947T>G	NCBI36
NG_047036.1:g.17618T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000701.8:c.143T>G MANE Select	NP_000692.2:p.Leu48Arg
ENST00000295598.10:c.143T>G MANE Select	ENSP00000295598.5:p.Leu48Arg
NM_000701.7:c.143T>G	NP_000692.2:p.Leu48Arg
NM_001160233.1:c.143T>G	NP_001153705.1:p.Leu48Arg
NM_001160233.2:c.143T>G	NP_001153705.1:p.Leu48Arg
NM_001160234.1:c.50T>G	NP_001153706.1:p.Leu17Arg
NM_001160234.2:c.50T>G	NP_001153706.1:p.Leu17Arg
ENST00000295598.9:c.143T>G	ENSP00000295598.5:p.Leu48Arg
ENST00000369494.5:c.50T>G	ENSP00000358506.1:p.Leu17Arg
ENST00000369496.8:c.50T>G	ENSP00000358508.4:p.Leu17Arg
ENST00000418797.5:c.50T>G	ENSP00000400124.1:p.Leu17Arg
ENST00000488733.1:n.386T>G
ENST00000537345.5:c.143T>G	ENSP00000445306.1:p.Leu48Arg
XM_006710655.2:c.50T>G	XP_006710718.1:p.Leu17Arg
XM_017001360.1:c.50T>G	XP_016856849.1:p.Leu17Arg
XM_017001361.1:c.50T>G	XP_016856850.1:p.Leu17Arg
XR_002956654.1:n.669T>G