Canonical Allele Identifier: CA421600365
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 511917
ClinVar RCV Id: RCV000600837
dbSNP Id: rs1553245135
MyVariant Identifiers: chr1:g.160100077G>T (hg19) chr1:g.160130287G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130287G>T , CM000663.2:g.160130287G>T GRCh38
NC_000001.10:g.160100077G>T , CM000663.1:g.160100077G>T GRCh37
NC_000001.9:g.158366701G>T NCBI36
NG_008014.1:g.19530G>T , LRG_6:g.19530G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1647G>T MANE Select ENSP00000354490.3:p.Val549=
ENST00000361216.7:c.1647G>T ENSP00000354490.3:p.Val549=
ENST00000392233.7:c.1647G>T ENSP00000376066.3:p.Val549=
ENST00000447527.1:c.779G>T
ENST00000472488.5:n.1750G>T
NM_000702.3:c.1647G>T NP_000693.1:p.Val549=
NM_000702.4:c.1647G>T MANE Select NP_000693.1:p.Val549=
Search 100 bp 5'
Search 100 bp 3'