Canonical Allele Identifier: CA7986549

Gene: ATP2A1 ATP2A1-AS1

Linked Data

• ClinVar Variation Id: 464074
• ClinVar RCV Id: RCV000532712
• dbSNP Id: rs201212818
• ExAC: 16:28890818 C / G
• gnomAD v2: 16-28890818-C-G
• gnomAD v3: 16-28879497-C-G
• gnomAD v4: 16-28879497-C-G
• MyVariant Identifiers: chr16:g.28890818C>G (hg19) ; chr16:g.28879497C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28879497C>G , CM000678.2:g.28879497C>G	GRCh38
NC_000016.9:g.28890818C>G , CM000678.1:g.28890818C>G	GRCh37
NC_000016.8:g.28798319C>G	NCBI36
NG_023327.1:g.6010C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.137-4C>G (ATP2A1) MANE Select	ENSP00000378879.5:n.137-4C>G
ENST00000357084.7:c.137-4C>G (ATP2A1)	ENSP00000349595.3:n.137-4C>G
ENST00000395503.8:c.137-4C>G (ATP2A1)	ENSP00000378879.4:n.137-4C>G
ENST00000562185.5:c.-243C>G (ATP2A1)	ENSP00000457798.1:n.-243C>G
ENST00000563975.1:c.53-4C>G (ATP2A1)	ENSP00000458035.1:n.53-4C>G
NM_004320.4:c.137-4C>G (ATP2A1)	NP_004311.1:n.137-4C>G
NM_173201.3:c.137-4C>G (ATP2A1)	NP_775293.1:n.137-4C>G
NR_046287.1:n.425G>C (ATP2A1-AS1)
NR_046288.1:n.425G>C (ATP2A1-AS1)
NR_046289.1:n.380+45G>C (ATP2A1-AS1)
NR_046290.1:n.380+45G>C (ATP2A1-AS1)
NM_004320.6:c.137-4C>G (ATP2A1) MANE Select	NP_004311.1:n.137-4C>G
NM_173201.4:c.137-4C>G (ATP2A1)	NP_775293.1:n.137-4C>G
NM_173201.5:c.137-4C>G (ATP2A1)	NP_775293.1:n.137-4C>G