Canonical Allele Identifier: CA395404137
Community Standard Title: NM_004320.6(ATP2A1):c.871G>C (p.Gly291Arg)
Gene: ATP2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28887665G>C , CM000678.2:g.28887665G>C GRCh38
NC_000016.9:g.28898986G>C , CM000678.1:g.28898986G>C GRCh37
NC_000016.8:g.28806487G>C NCBI36
NG_023327.1:g.14178G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004320.6:c.871G>C MANE Select NP_004311.1:p.Gly291Arg
ENST00000395503.9:c.871G>C MANE Select ENSP00000378879.5:p.Gly291Arg
NM_001286075.1:c.496G>C NP_001273004.1:p.Gly166Arg
NM_001286075.2:c.496G>C NP_001273004.1:p.Gly166Arg
NM_004320.4:c.871G>C NP_004311.1:p.Gly291Arg
NM_173201.3:c.871G>C NP_775293.1:p.Gly291Arg
NM_173201.4:c.871G>C NP_775293.1:p.Gly291Arg
NM_173201.5:c.871G>C NP_775293.1:p.Gly291Arg
ENST00000357084.7:c.871G>C ENSP00000349595.3:p.Gly291Arg
ENST00000395503.8:c.871G>C ENSP00000378879.4:p.Gly291Arg
ENST00000536376.5:c.496G>C ENSP00000443101.1:p.Gly166Arg
ENST00000564732.1:c.3G>C