Canonical Allele Identifier: CA7986557
Community Standard Title: NM_004320.6(ATP2A1):c.159G>A (p.Val53=)
Gene: ATP2A1 HGNC NCBI
ATP2A1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28879523G>A , CM000678.2:g.28879523G>A GRCh38
NC_000016.9:g.28890844G>A , CM000678.1:g.28890844G>A GRCh37
NC_000016.8:g.28798345G>A NCBI36
NG_023327.1:g.6036G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004320.6:c.159G>A (ATP2A1) MANE Select NP_004311.1:p.Val53=
ENST00000395503.9:c.159G>A (ATP2A1) MANE Select ENSP00000378879.5:p.Val53=
NM_004320.4:c.159G>A (ATP2A1) NP_004311.1:p.Val53=
NM_173201.3:c.159G>A (ATP2A1) NP_775293.1:p.Val53=
NM_173201.4:c.159G>A (ATP2A1) NP_775293.1:p.Val53=
NM_173201.5:c.159G>A (ATP2A1) NP_775293.1:p.Val53=
NR_046287.1:n.399C>T (ATP2A1-AS1)
NR_046288.1:n.399C>T (ATP2A1-AS1)
NR_046289.1:n.380+19C>T (ATP2A1-AS1)
NR_046290.1:n.380+19C>T (ATP2A1-AS1)
ENST00000357084.7:c.159G>A (ATP2A1) ENSP00000349595.3:p.Val53=
ENST00000395503.8:c.159G>A (ATP2A1) ENSP00000378879.4:p.Val53=
ENST00000562185.5:c.-217G>A (ATP2A1) ENSP00000457798.1:n.-217G>A
ENST00000563975.1:c.75G>A (ATP2A1) ENSP00000458035.1:p.Val25=