Canonical Allele Identifier: CA7987154

Gene: ATP2A1

Linked Data

• ClinVar Variation Id: 1466904
• ClinVar RCV Id: RCV001966200
• dbSNP Id: rs775815693
• ExAC: 16:28912177 G / T
• gnomAD v2: 16-28912177-G-T
• gnomAD v4: 16-28900856-G-T
• MyVariant Identifiers: chr16:g.28912177G>T (hg19) ; chr16:g.28900856G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900856G>T , CM000678.2:g.28900856G>T	GRCh38
NC_000016.9:g.28912177G>T , CM000678.1:g.28912177G>T	GRCh37
NC_000016.8:g.28819678G>T	NCBI36
NG_023327.1:g.27369G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395503.9:c.2040G>T MANE Select	ENSP00000378879.5:p.Glu680Asp
ENST00000357084.7:c.2040G>T	ENSP00000349595.3:p.Glu680Asp
ENST00000395503.8:c.2040G>T	ENSP00000378879.4:p.Glu680Asp
ENST00000536376.5:c.1665G>T	ENSP00000443101.1:p.Glu555Asp
NM_001286075.1:c.1665G>T	NP_001273004.1:p.Glu555Asp
NM_004320.4:c.2040G>T	NP_004311.1:p.Glu680Asp
NM_173201.3:c.2040G>T	NP_775293.1:p.Glu680Asp
NM_004320.6:c.2040G>T MANE Select	NP_004311.1:p.Glu680Asp
NM_173201.4:c.2040G>T	NP_775293.1:p.Glu680Asp
NM_001286075.2:c.1665G>T	NP_001273004.1:p.Glu555Asp
NM_173201.5:c.2040G>T	NP_775293.1:p.Glu680Asp