Canonical Allele Identifier: CA7987085
Gene: ATP2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 318778
ClinVar RCV Id: RCV000349891 RCV001764287
dbSNP Id: rs142091964
ExAC: 16:28911917 G / A
gnomAD v2: 16-28911917-G-A
gnomAD v3: 16-28900596-G-A
gnomAD v4: 16-28900596-G-A
MyVariant Identifiers: chr16:g.28911917G>A (hg19) chr16:g.28900596G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28900596G>A , CM000678.2:g.28900596G>A GRCh38
NC_000016.9:g.28911917G>A , CM000678.1:g.28911917G>A GRCh37
NC_000016.8:g.28819418G>A NCBI36
NG_023327.1:g.27109G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395503.9:c.1780G>A MANE Select ENSP00000378879.5:p.Val594Met
ENST00000357084.7:c.1780G>A ENSP00000349595.3:p.Val594Met
ENST00000395503.8:c.1780G>A ENSP00000378879.4:p.Val594Met
ENST00000536376.5:c.1405G>A ENSP00000443101.1:p.Val469Met
ENST00000564732.1:c.809G>A
NM_001286075.1:c.1405G>A NP_001273004.1:p.Val469Met
NM_004320.4:c.1780G>A NP_004311.1:p.Val594Met
NM_173201.3:c.1780G>A NP_775293.1:p.Val594Met
NM_004320.6:c.1780G>A MANE Select NP_004311.1:p.Val594Met
NM_173201.4:c.1780G>A NP_775293.1:p.Val594Met
NM_001286075.2:c.1405G>A NP_001273004.1:p.Val469Met
NM_173201.5:c.1780G>A NP_775293.1:p.Val594Met
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