Canonical Allele Identifier: CA343244336
Gene: ATP1A2 HGNC NCBI

Linked Data

gnomAD v4: 1-160130523-C-T
COSMIC: COSM898180
MyVariant Identifiers: chr1:g.160100313C>T (hg19) chr1:g.160130523C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130523C>T , CM000663.2:g.160130523C>T GRCh38
NC_000001.10:g.160100313C>T , CM000663.1:g.160100313C>T GRCh37
NC_000001.9:g.158366937C>T NCBI36
NG_008014.1:g.19766C>T , LRG_6:g.19766C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1753C>T MANE Select ENSP00000354490.3:p.Leu585Phe
ENST00000361216.7:c.1753C>T ENSP00000354490.3:p.Leu585Phe
ENST00000392233.7:c.1753C>T ENSP00000376066.3:p.Leu585Phe
ENST00000447527.1:c.885C>T
ENST00000472488.5:n.1856C>T
NM_000702.3:c.1753C>T NP_000693.1:p.Leu585Phe
NM_000702.4:c.1753C>T MANE Select NP_000693.1:p.Leu585Phe
Search 100 bp 5'
Search 100 bp 3'