Canonical Allele Identifier: CA7986871
Gene: ATP2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.28894244G>A
GRCh37 chr16:g.28905565G>A
gnomAD v2:
16:28905565 G / A
gnomAD v3:
16:28894244 G / A
gnomAD v4:
chr16-28894244-G-A
Joint Max Group AF 0.00005112 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000525 (NFE)
ClinVar RCV:
RCV000424927
RCV000812735
ClinVar Variation:
392313
dbSNP:
551660089
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Genomic Alleles

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

Transcript Alleles

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