Canonical Allele Identifier: CA31506238
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2111380
ClinVar RCV Id: RCV003023941
dbSNP Id: rs867671432
gnomAD v4: 1-160139960-C-T
MyVariant Identifiers: chr1:g.160109750C>T (hg19) chr1:g.160139960C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139960C>T , CM000663.2:g.160139960C>T GRCh38
NC_000001.10:g.160109750C>T , CM000663.1:g.160109750C>T GRCh37
NC_000001.9:g.158376374C>T NCBI36
NG_008014.1:g.29203C>T , LRG_6:g.29203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3010C>T MANE Select ENSP00000354490.3:p.Leu1004Phe
ENST00000361216.7:c.3010C>T ENSP00000354490.3:p.Leu1004Phe
ENST00000392233.7:c.2977C>T ENSP00000376066.3:p.Leu993Phe
ENST00000447527.1:c.2091C>T
ENST00000459972.1:n.2C>T
ENST00000463989.1:n.346C>T
NM_000702.3:c.3010C>T NP_000693.1:p.Leu1004Phe
NM_000702.4:c.3010C>T MANE Select NP_000693.1:p.Leu1004Phe
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