Canonical Allele Identifier: CA211218

Gene: ATP1A1

Linked Data

• ClinVar Variation Id: 162466
• ClinVar RCV Id: RCV000149851
• dbSNP Id: rs11540945
• COSMIC: COSM1717741
• MyVariant Identifiers: chr1:g.116930037T>G (hg19) ; chr1:g.116387415T>G (hg38)
• PubMed: PMID:23416519

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.116387415T>G , CM000663.2:g.116387415T>G	GRCh38
NC_000001.10:g.116930037T>G , CM000663.1:g.116930037T>G	GRCh37
NC_000001.9:g.116731560T>G	NCBI36
NG_047036.1:g.20231T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295598.10:c.311T>G MANE Select	ENSP00000295598.5:p.Leu104Arg
ENST00000295598.9:c.311T>G	ENSP00000295598.5:p.Leu104Arg
ENST00000369494.5:c.218T>G	ENSP00000358506.1:p.Leu73Arg
ENST00000369496.8:c.218T>G	ENSP00000358508.4:p.Leu73Arg
ENST00000418797.5:c.218T>G	ENSP00000400124.1:p.Leu73Arg
ENST00000463382.1:n.113T>G
ENST00000537345.5:c.311T>G	ENSP00000445306.1:p.Leu104Arg
NM_000701.7:c.311T>G	NP_000692.2:p.Leu104Arg
NM_001160233.1:c.311T>G	NP_001153705.1:p.Leu104Arg
NM_001160234.1:c.218T>G	NP_001153706.1:p.Leu73Arg
XM_006710655.2:c.218T>G	XP_006710718.1:p.Leu73Arg
XM_017001360.1:c.218T>G	XP_016856849.1:p.Leu73Arg
XM_017001361.1:c.218T>G	XP_016856850.1:p.Leu73Arg
XR_002956654.1:n.837T>G
NM_000701.8:c.311T>G MANE Select	NP_000692.2:p.Leu104Arg
NM_001160233.2:c.311T>G	NP_001153705.1:p.Leu104Arg
NM_001160234.2:c.218T>G	NP_001153706.1:p.Leu73Arg