Canonical Allele Identifier: CA494491400
Gene: ATP2A1 HGNC NCBI
ATP2A1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28879559C>T , CM000678.2:g.28879559C>T GRCh38
NC_000016.9:g.28890880C>T , CM000678.1:g.28890880C>T GRCh37
NC_000016.8:g.28798381C>T NCBI36
NG_023327.1:g.6072C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004320.6:c.195C>T (ATP2A1) MANE Select NP_004311.1:p.Leu65=
ENST00000395503.9:c.195C>T (ATP2A1) MANE Select ENSP00000378879.5:p.Leu65=
NM_004320.4:c.195C>T (ATP2A1) NP_004311.1:p.Leu65=
NM_173201.3:c.195C>T (ATP2A1) NP_775293.1:p.Leu65=
NM_173201.4:c.195C>T (ATP2A1) NP_775293.1:p.Leu65=
NM_173201.5:c.195C>T (ATP2A1) NP_775293.1:p.Leu65=
NR_046287.1:n.363G>A (ATP2A1-AS1)
NR_046288.1:n.363G>A (ATP2A1-AS1)
NR_046289.1:n.363G>A (ATP2A1-AS1)
NR_046290.1:n.363G>A (ATP2A1-AS1)
ENST00000357084.7:c.195C>T (ATP2A1) ENSP00000349595.3:p.Leu65=
ENST00000395503.8:c.195C>T (ATP2A1) ENSP00000378879.4:p.Leu65=
ENST00000562185.5:c.-181C>T (ATP2A1) ENSP00000457798.1:n.-181C>T
ENST00000563975.1:c.111C>T (ATP2A1) ENSP00000458035.1:p.Leu37=