Canonical Allele Identifier: CA7987362

Gene: ATP2A1

Linked Data

• dbSNP Id: rs776733152
• ExAC: 16:28914210 G / A
• gnomAD v2: 16-28914210-G-A
• gnomAD v3: 16-28902889-G-A
• gnomAD v4: 16-28902889-G-A
• COSMIC: COSM1742829
• MyVariant Identifiers: chr16:g.28914210G>A (hg19) ; chr16:g.28902889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28902889G>A , CM000678.2:g.28902889G>A	GRCh38
NC_000016.9:g.28914210G>A , CM000678.1:g.28914210G>A	GRCh37
NC_000016.8:g.28821711G>A	NCBI36
NG_023327.1:g.29402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.2722G>A MANE Select	ENSP00000378879.5:p.Glu908Lys
ENST00000357084.7:c.2722G>A	ENSP00000349595.3:p.Glu908Lys
ENST00000395503.8:c.2722G>A	ENSP00000378879.4:p.Glu908Lys
ENST00000536376.5:c.2347G>A	ENSP00000443101.1:p.Glu783Lys
NM_001286075.1:c.2347G>A	NP_001273004.1:p.Glu783Lys
NM_004320.4:c.2722G>A	NP_004311.1:p.Glu908Lys
NM_173201.3:c.2722G>A	NP_775293.1:p.Glu908Lys
NM_004320.6:c.2722G>A MANE Select	NP_004311.1:p.Glu908Lys
NM_173201.4:c.2722G>A	NP_775293.1:p.Glu908Lys
NM_001286075.2:c.2347G>A	NP_001273004.1:p.Glu783Lys
NM_173201.5:c.2722G>A	NP_775293.1:p.Glu908Lys