Canonical Allele Identifier: CA395407079
Gene: ATP2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28894244G>T , CM000678.2:g.28894244G>T GRCh38
NC_000016.9:g.28905565G>T , CM000678.1:g.28905565G>T GRCh37
NC_000016.8:g.28813066G>T NCBI36
NG_023327.1:g.20757G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004320.6:c.1184+1G>T MANE Select NP_004311.1:n.1184+1G>T
ENST00000395503.9:c.1184+1G>T MANE Select ENSP00000378879.5:n.1184+1G>T
NM_001286075.1:c.809+1G>T NP_001273004.1:n.809+1G>T
NM_001286075.2:c.809+1G>T NP_001273004.1:n.809+1G>T
NM_004320.4:c.1184+1G>T NP_004311.1:n.1184+1G>T
NM_173201.3:c.1184+1G>T NP_775293.1:n.1184+1G>T
NM_173201.4:c.1184+1G>T NP_775293.1:n.1184+1G>T
NM_173201.5:c.1184+1G>T NP_775293.1:n.1184+1G>T
ENST00000357084.7:c.1184+1G>T ENSP00000349595.3:n.1184+1G>T
ENST00000395503.8:c.1184+1G>T ENSP00000378879.4:n.1184+1G>T
ENST00000536376.5:c.809+1G>T ENSP00000443101.1:n.809+1G>T
ENST00000564732.1:c.316+1G>T