Canonical Allele Identifier: CA395413627
Gene: ATP2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.28902228C>G
GRCh37 chr16:g.28913549C>G
Revel Score:
ENST00000357084 0.979
ENST00000395503 (MANE Select) 0.979
ENST00000395498 0.979
ENST00000536376 0.979
ClinVar RCV:
RCV000802040
ClinVar Variation:
647518
dbSNP:
121918115
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28902228C>G , CM000678.2:g.28902228C>G GRCh38
NC_000016.9:g.28913549C>G , CM000678.1:g.28913549C>G GRCh37
NC_000016.8:g.28821050C>G NCBI36
NG_023327.1:g.28741C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395503.9:c.2366C>G MANE Select ENSP00000378879.5:p.Pro789Arg
ENST00000357084.7:c.2366C>G ENSP00000349595.3:p.Pro789Arg
ENST00000395503.8:c.2366C>G ENSP00000378879.4:p.Pro789Arg
ENST00000536376.5:c.1991C>G ENSP00000443101.1:p.Pro664Arg
NM_001286075.1:c.1991C>G NP_001273004.1:p.Pro664Arg
NM_004320.4:c.2366C>G NP_004311.1:p.Pro789Arg
NM_173201.3:c.2366C>G NP_775293.1:p.Pro789Arg
NM_004320.6:c.2366C>G MANE Select NP_004311.1:p.Pro789Arg
NM_173201.4:c.2366C>G NP_775293.1:p.Pro789Arg
NM_001286075.2:c.1991C>G NP_001273004.1:p.Pro664Arg
NM_173201.5:c.2366C>G NP_775293.1:p.Pro789Arg
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