Canonical Allele Identifier: CA127436
Gene: ATP2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17803
ClinVar RCV Id: RCV000019381
dbSNP Id: rs121918114

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28900841C>A , CM000678.2:g.28900841C>A GRCh38
NC_000016.9:g.28912162C>A , CM000678.1:g.28912162C>A GRCh37
NC_000016.8:g.28819663C>A NCBI36
NG_023327.1:g.27354C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395503.9:c.2025C>A MANE Select ENSP00000378879.5:p.Cys675Ter
ENST00000357084.7:c.2025C>A ENSP00000349595.3:p.Cys675Ter
ENST00000395503.8:c.2025C>A ENSP00000378879.4:p.Cys675Ter
ENST00000536376.5:c.1650C>A ENSP00000443101.1:p.Cys550Ter
NM_001286075.1:c.1650C>A NP_001273004.1:p.Cys550Ter
NM_004320.4:c.2025C>A NP_004311.1:p.Cys675Ter
NM_173201.3:c.2025C>A NP_775293.1:p.Cys675Ter
NM_004320.6:c.2025C>A MANE Select NP_004311.1:p.Cys675Ter
NM_173201.4:c.2025C>A NP_775293.1:p.Cys675Ter
NM_001286075.2:c.1650C>A NP_001273004.1:p.Cys550Ter
NM_173201.5:c.2025C>A NP_775293.1:p.Cys675Ter