Canonical Allele Identifier: CA395411484

Gene: ATP2A1

Linked Data

• gnomAD v4: 16-28900865-C-A
• MyVariant Identifiers: chr16:g.28912186C>A (hg19) ; chr16:g.28900865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28900865C>A , CM000678.2:g.28900865C>A	GRCh38
NC_000016.9:g.28912186C>A , CM000678.1:g.28912186C>A	GRCh37
NC_000016.8:g.28819687C>A	NCBI36
NG_023327.1:g.27378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395503.9:c.2049C>A MANE Select	ENSP00000378879.5:p.His683Gln
ENST00000357084.7:c.2049C>A	ENSP00000349595.3:p.His683Gln
ENST00000395503.8:c.2049C>A	ENSP00000378879.4:p.His683Gln
ENST00000536376.5:c.1674C>A	ENSP00000443101.1:p.His558Gln
NM_001286075.1:c.1674C>A	NP_001273004.1:p.His558Gln
NM_004320.4:c.2049C>A	NP_004311.1:p.His683Gln
NM_173201.3:c.2049C>A	NP_775293.1:p.His683Gln
NM_004320.6:c.2049C>A MANE Select	NP_004311.1:p.His683Gln
NM_173201.4:c.2049C>A	NP_775293.1:p.His683Gln
NM_001286075.2:c.1674C>A	NP_001273004.1:p.His558Gln
NM_173201.5:c.2049C>A	NP_775293.1:p.His683Gln