Canonical Allele Identifier: CA343244281
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160100298C>A (hg19) chr1:g.160130508C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130508C>A , CM000663.2:g.160130508C>A GRCh38
NC_000001.10:g.160100298C>A , CM000663.1:g.160100298C>A GRCh37
NC_000001.9:g.158366922C>A NCBI36
NG_008014.1:g.19751C>A , LRG_6:g.19751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1738C>A MANE Select ENSP00000354490.3:p.Leu580Ile
ENST00000361216.7:c.1738C>A ENSP00000354490.3:p.Leu580Ile
ENST00000392233.7:c.1738C>A ENSP00000376066.3:p.Leu580Ile
ENST00000447527.1:c.870C>A
ENST00000472488.5:n.1841C>A
NM_000702.3:c.1738C>A NP_000693.1:p.Leu580Ile
NM_000702.4:c.1738C>A MANE Select NP_000693.1:p.Leu580Ile
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