Canonical Allele Identifier: CA343248718

Gene: ATP1A2

Linked Data

• gnomAD v3: 1-160135269-A-C
• gnomAD v4: 1-160135269-A-C
• MyVariant Identifiers: chr1:g.160105059A>C (hg19) ; chr1:g.160135269A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160135269A>C , CM000663.2:g.160135269A>C	GRCh38
NC_000001.10:g.160105059A>C , CM000663.1:g.160105059A>C	GRCh37
NC_000001.9:g.158371683A>C	NCBI36
NG_008014.1:g.24512A>C , LRG_6:g.24512A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361216.8:c.2089A>C MANE Select	ENSP00000354490.3:p.Ile697Leu
ENST00000361216.7:c.2089A>C	ENSP00000354490.3:p.Ile697Leu
ENST00000392233.7:c.2089A>C	ENSP00000376066.3:p.Ile697Leu
ENST00000447527.1:c.1221A>C
ENST00000472488.5:n.2192A>C
NM_000702.3:c.2089A>C	NP_000693.1:p.Ile697Leu
NM_000702.4:c.2089A>C MANE Select	NP_000693.1:p.Ile697Leu