Canonical Allele Identifier: CA343243807
Gene: ATP1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.160100078C>G (hg19) chr1:g.160130288C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130288C>G , CM000663.2:g.160130288C>G GRCh38
NC_000001.10:g.160100078C>G , CM000663.1:g.160100078C>G GRCh37
NC_000001.9:g.158366702C>G NCBI36
NG_008014.1:g.19531C>G , LRG_6:g.19531C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1648C>G MANE Select ENSP00000354490.3:p.Leu550Val
ENST00000361216.7:c.1648C>G ENSP00000354490.3:p.Leu550Val
ENST00000392233.7:c.1648C>G ENSP00000376066.3:p.Leu550Val
ENST00000447527.1:c.780C>G
ENST00000472488.5:n.1751C>G
NM_000702.3:c.1648C>G NP_000693.1:p.Leu550Val
NM_000702.4:c.1648C>G MANE Select NP_000693.1:p.Leu550Val
Search 100 bp 5'
Search 100 bp 3'