Canonical Allele Identifier: CA2215888992
Community Standard Title: NM_004320.6(ATP2A1):c.2758C= (p.Gln920=)
Gene: ATP2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28903043C= , CM000678.2:g.28903043C= GRCh38
NC_000016.9:g.28914364C= , CM000678.1:g.28914364C= GRCh37
NC_000016.8:g.28821865C= NCBI36
NG_023327.1:g.29556C=

Transcript Alleles

HGVS Amino-acid Change
NM_004320.6:c.2758C= MANE Select NP_004311.1:p.Gln920=
ENST00000395503.9:c.2758C= MANE Select ENSP00000378879.5:p.Gln920=
NM_001286075.1:c.2383C= NP_001273004.1:p.Gln795=
NM_001286075.2:c.2383C= NP_001273004.1:p.Gln795=
NM_004320.4:c.2758C= NP_004311.1:p.Gln920=
NM_173201.3:c.2758C= NP_775293.1:p.Gln920=
NM_173201.4:c.2758C= NP_775293.1:p.Gln920=
NM_173201.5:c.2758C= NP_775293.1:p.Gln920=
ENST00000357084.7:c.2758C= ENSP00000349595.3:p.Gln920=
ENST00000395503.8:c.2758C= ENSP00000378879.4:p.Gln920=
ENST00000536376.5:c.2383C= ENSP00000443101.1:p.Gln795=