Canonical Allele Identifier: CA7987158
Gene: ATP2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017865
ClinVar RCV Id: RCV001317078
dbSNP Id: rs761806925
ExAC: 16:28912197 T / C
gnomAD v2: 16-28912197-T-C
gnomAD v3: 16-28900876-T-C
gnomAD v4: 16-28900876-T-C
MyVariant Identifiers: chr16:g.28912197T>C (hg19) chr16:g.28900876T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28900876T>C , CM000678.2:g.28900876T>C GRCh38
NC_000016.9:g.28912197T>C , CM000678.1:g.28912197T>C GRCh37
NC_000016.8:g.28819698T>C NCBI36
NG_023327.1:g.27389T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395503.9:c.2060T>C MANE Select ENSP00000378879.5:p.Ile687Thr
ENST00000357084.7:c.2060T>C ENSP00000349595.3:p.Ile687Thr
ENST00000395503.8:c.2060T>C ENSP00000378879.4:p.Ile687Thr
ENST00000536376.5:c.1685T>C ENSP00000443101.1:p.Ile562Thr
NM_001286075.1:c.1685T>C NP_001273004.1:p.Ile562Thr
NM_004320.4:c.2060T>C NP_004311.1:p.Ile687Thr
NM_173201.3:c.2060T>C NP_775293.1:p.Ile687Thr
NM_004320.6:c.2060T>C MANE Select NP_004311.1:p.Ile687Thr
NM_173201.4:c.2060T>C NP_775293.1:p.Ile687Thr
NM_001286075.2:c.1685T>C NP_001273004.1:p.Ile562Thr
NM_173201.5:c.2060T>C NP_775293.1:p.Ile687Thr
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