Canonical Allele Identifier: CA7987156

Gene: ATP2A1

Linked Data

• ClinVar Variation Id: 532734
• ClinVar RCV Id: RCV000639617 ; RCV003953137
• dbSNP Id: rs150380125
• ExAC: 16:28912183 G / A
• gnomAD v2: 16-28912183-G-A
• gnomAD v3: 16-28900862-G-A
• gnomAD v4: 16-28900862-G-A
• MyVariant Identifiers: chr16:g.28912183G>A (hg19) ; chr16:g.28900862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900862G>A , CM000678.2:g.28900862G>A	GRCh38
NC_000016.9:g.28912183G>A , CM000678.1:g.28912183G>A	GRCh37
NC_000016.8:g.28819684G>A	NCBI36
NG_023327.1:g.27375G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395503.9:c.2046G>A MANE Select	ENSP00000378879.5:p.Ser682=
ENST00000357084.7:c.2046G>A	ENSP00000349595.3:p.Ser682=
ENST00000395503.8:c.2046G>A	ENSP00000378879.4:p.Ser682=
ENST00000536376.5:c.1671G>A	ENSP00000443101.1:p.Ser557=
NM_001286075.1:c.1671G>A	NP_001273004.1:p.Ser557=
NM_004320.4:c.2046G>A	NP_004311.1:p.Ser682=
NM_173201.3:c.2046G>A	NP_775293.1:p.Ser682=
NM_004320.6:c.2046G>A MANE Select	NP_004311.1:p.Ser682=
NM_173201.4:c.2046G>A	NP_775293.1:p.Ser682=
NM_001286075.2:c.1671G>A	NP_001273004.1:p.Ser557=
NM_173201.5:c.2046G>A	NP_775293.1:p.Ser682=