Canonical Allele Identifier: CA1194558
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390448
ClinVar RCV Id: RCV000435735 RCV001851068
dbSNP Id: rs199749129
ExAC: 1:160100221 A / T
gnomAD v2: 1-160100221-A-T
gnomAD v3: 1-160130431-A-T
gnomAD v4: 1-160130431-A-T
MyVariant Identifiers: chr1:g.160100221A>T (hg19) chr1:g.160130431A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130431A>T , CM000663.2:g.160130431A>T GRCh38
NC_000001.10:g.160100221A>T , CM000663.1:g.160100221A>T GRCh37
NC_000001.9:g.158366845A>T NCBI36
NG_008014.1:g.19674A>T , LRG_6:g.19674A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1661A>T MANE Select ENSP00000354490.3:p.Gln554Leu
ENST00000361216.7:c.1661A>T ENSP00000354490.3:p.Gln554Leu
ENST00000392233.7:c.1661A>T ENSP00000376066.3:p.Gln554Leu
ENST00000447527.1:c.793A>T
ENST00000472488.5:n.1764A>T
NM_000702.3:c.1661A>T NP_000693.1:p.Gln554Leu
NM_000702.4:c.1661A>T MANE Select NP_000693.1:p.Gln554Leu
Search 100 bp 5'
Search 100 bp 3'