Canonical Allele Identifier: CA395411430

Gene: ATP2A1

Linked Data

• dbSNP Id: rs1351602310
• gnomAD v2: 16-28912160-T-C
• gnomAD v4: 16-28900839-T-C
• MyVariant Identifiers: chr16:g.28912160T>C (hg19) ; chr16:g.28900839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900839T>C , CM000678.2:g.28900839T>C	GRCh38
NC_000016.9:g.28912160T>C , CM000678.1:g.28912160T>C	GRCh37
NC_000016.8:g.28819661T>C	NCBI36
NG_023327.1:g.27352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.2023T>C MANE Select	ENSP00000378879.5:p.Cys675Arg
ENST00000357084.7:c.2023T>C	ENSP00000349595.3:p.Cys675Arg
ENST00000395503.8:c.2023T>C	ENSP00000378879.4:p.Cys675Arg
ENST00000536376.5:c.1648T>C	ENSP00000443101.1:p.Cys550Arg
NM_001286075.1:c.1648T>C	NP_001273004.1:p.Cys550Arg
NM_004320.4:c.2023T>C	NP_004311.1:p.Cys675Arg
NM_173201.3:c.2023T>C	NP_775293.1:p.Cys675Arg
NM_004320.6:c.2023T>C MANE Select	NP_004311.1:p.Cys675Arg
NM_173201.4:c.2023T>C	NP_775293.1:p.Cys675Arg
NM_001286075.2:c.1648T>C	NP_001273004.1:p.Cys550Arg
NM_173201.5:c.2023T>C	NP_775293.1:p.Cys675Arg