Canonical Allele Identifier: CA7987132
Gene: ATP2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.28900782C>T
GRCh37 chr16:g.28912103C>T
gnomAD v2:
16:28912103 C / T
gnomAD v3:
16:28900782 C / T
gnomAD v4:
chr16-28900782-C-T
Joint Max Group AF 0.00001425 (SAS)
Genomes Max Group AF 0.00007299 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV001872466
ClinVar Variation:
1360311
dbSNP:
559067146
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28900782C>T , CM000678.2:g.28900782C>T GRCh38
NC_000016.9:g.28912103C>T , CM000678.1:g.28912103C>T GRCh37
NC_000016.8:g.28819604C>T NCBI36
NG_023327.1:g.27295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395503.9:c.1966C>T MANE Select ENSP00000378879.5:p.Arg656Ter
ENST00000357084.7:c.1966C>T ENSP00000349595.3:p.Arg656Ter
ENST00000395503.8:c.1966C>T ENSP00000378879.4:p.Arg656Ter
ENST00000536376.5:c.1591C>T ENSP00000443101.1:p.Arg531Ter
NM_001286075.1:c.1591C>T NP_001273004.1:p.Arg531Ter
NM_004320.4:c.1966C>T NP_004311.1:p.Arg656Ter
NM_173201.3:c.1966C>T NP_775293.1:p.Arg656Ter
NM_004320.6:c.1966C>T MANE Select NP_004311.1:p.Arg656Ter
NM_173201.4:c.1966C>T NP_775293.1:p.Arg656Ter
NM_001286075.2:c.1591C>T NP_001273004.1:p.Arg531Ter
NM_173201.5:c.1966C>T NP_775293.1:p.Arg656Ter
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