Canonical Allele Identifier: CA395411577

Gene: ATP2A1

Linked Data

• ClinVar Variation Id: 2101922
• ClinVar RCV Id: RCV003026256
• MyVariant Identifiers: chr16:g.28912226A>G (hg19) ; chr16:g.28900905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900905A>G , CM000678.2:g.28900905A>G	GRCh38
NC_000016.9:g.28912226A>G , CM000678.1:g.28912226A>G	GRCh37
NC_000016.8:g.28819727A>G	NCBI36
NG_023327.1:g.27418A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.2089A>G MANE Select	ENSP00000378879.5:p.Ile697Val
ENST00000357084.7:c.2089A>G	ENSP00000349595.3:p.Ile697Val
ENST00000395503.8:c.2089A>G	ENSP00000378879.4:p.Ile697Val
ENST00000536376.5:c.1714A>G	ENSP00000443101.1:p.Ile572Val
NM_001286075.1:c.1714A>G	NP_001273004.1:p.Ile572Val
NM_004320.4:c.2089A>G	NP_004311.1:p.Ile697Val
NM_173201.3:c.2089A>G	NP_775293.1:p.Ile697Val
NM_004320.6:c.2089A>G MANE Select	NP_004311.1:p.Ile697Val
NM_173201.4:c.2089A>G	NP_775293.1:p.Ile697Val
NM_001286075.2:c.1714A>G	NP_001273004.1:p.Ile572Val
NM_173201.5:c.2089A>G	NP_775293.1:p.Ile697Val