Canonical Allele Identifier: CA000578
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189499
ClinVar RCV Id: RCV000169889
dbSNP Id: rs786204942

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863675C>G , CM000672.2:g.87863675C>G GRCh38
NC_000010.10:g.89623432C>G , CM000672.1:g.89623432C>G GRCh37
NC_000010.9:g.89613412C>G NCBI36
NG_007466.2:g.5238C>G , LRG_311:g.5238C>G
NG_033079.1:g.4763G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.-795C>G ENSP00000514759.2:n.-795C>G
ENST00000710265.1:c.-795C>G ENSP00000518161.1:n.-795C>G
ENST00000706954.1:c.-16-779C>G ENSP00000516674.1:n.-16-779C>G
ENST00000706955.1:c.-795C>G ENSP00000516675.1:n.-795C>G
ENST00000688158.1:c.-795C>G ENSP00000509254.1:n.-795C>G
ENST00000688308.1:c.-17+562C>G ENSP00000508752.1:n.-17+562C>G
ENST00000693560.1:c.-275C>G ENSP00000509861.1:n.-275C>G
ENST00000371953.8:c.-795C>G MANE Select ENSP00000361021.3:n.-795C>G
ENST00000371953.7:c.-795C>G ENSP00000361021.3:n.-795C>G
ENST00000610634.1:c.-897C>G ENSP00000477517.1:n.-897C>G
NM_000314.5:c.-794C>G NP_000305.3:n.-794C>G
NM_000314.6:c.-794C>G NP_000305.3:n.-794C>G
NM_001304717.2:c.-275C>G NP_001291646.2:n.-275C>G
NM_001304718.1:c.-1499C>G NP_001291647.1:n.-1499C>G
NM_000314.7:c.-794C>G NP_000305.3:n.-794C>G
NM_001304717.5:c.-275C>G NP_001291646.4:n.-275C>G
NM_001304718.2:c.-1499C>G NP_001291647.1:n.-1499C>G
NM_000314.8:c.-795C>G MANE Select NP_000305.3:n.-795C>G