Canonical Allele Identifier: CA10643415

Gene: ATP2A1

Linked Data

• ClinVar Variation Id: 318781
• ClinVar RCV Id: RCV000369513
• dbSNP Id: rs886051880
• gnomAD v4: 16-28900757-G-A
• MyVariant Identifiers: chr16:g.28912078G>A (hg19) ; chr16:g.28900757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900757G>A , CM000678.2:g.28900757G>A	GRCh38
NC_000016.9:g.28912078G>A , CM000678.1:g.28912078G>A	GRCh37
NC_000016.8:g.28819579G>A	NCBI36
NG_023327.1:g.27270G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395503.9:c.1941G>A MANE Select	ENSP00000378879.5:p.Glu647=
ENST00000357084.7:c.1941G>A	ENSP00000349595.3:p.Glu647=
ENST00000395503.8:c.1941G>A	ENSP00000378879.4:p.Glu647=
ENST00000536376.5:c.1566G>A	ENSP00000443101.1:p.Glu522=
NM_001286075.1:c.1566G>A	NP_001273004.1:p.Glu522=
NM_004320.4:c.1941G>A	NP_004311.1:p.Glu647=
NM_173201.3:c.1941G>A	NP_775293.1:p.Glu647=
NM_004320.6:c.1941G>A MANE Select	NP_004311.1:p.Glu647=
NM_173201.4:c.1941G>A	NP_775293.1:p.Glu647=
NM_001286075.2:c.1566G>A	NP_001273004.1:p.Glu522=
NM_173201.5:c.1941G>A	NP_775293.1:p.Glu647=