Canonical Allele Identifier: CA000569
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 7828
dbSNP Id: rs121909228
COSMIC: COSM5326

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957984G>T , CM000672.2:g.87957984G>T GRCh38
NC_000010.10:g.89717741G>T , CM000672.1:g.89717741G>T GRCh37
NC_000010.9:g.89707721G>T NCBI36
NG_007466.2:g.99546G>T , LRG_311:g.99546G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.766G>T ENSP00000514759.2:p.Glu256Ter
ENST00000710265.1:c.766G>T ENSP00000518161.1:p.Glu256Ter
ENST00000472832.3:c.766G>T ENSP00000483066.2:p.Glu256Ter
ENST00000688158.2:n.1501G>T
ENST00000688922.2:c.*596G>T ENSP00000508742.2:n.*596G>T
ENST00000700021.1:c.721G>T ENSP00000514757.1:p.Glu241Ter
ENST00000700022.1:c.*105G>T ENSP00000514758.1:n.*105G>T
ENST00000700023.1:n.1924G>T
ENST00000700024.1:n.2158G>T
ENST00000700025.1:n.1535G>T
ENST00000700026.1:n.403G>T
ENST00000700029.1:c.600G>T
ENST00000706954.1:c.766G>T ENSP00000516674.1:p.Glu256Ter
ENST00000706955.1:c.*801G>T ENSP00000516675.1:n.*801G>T
ENST00000686459.1:c.*352G>T ENSP00000508909.1:n.*352G>T
ENST00000688158.1:c.*877G>T ENSP00000509254.1:n.*877G>T
ENST00000688308.1:c.766G>T ENSP00000508752.1:p.Glu256Ter
ENST00000688922.1:c.687G>T
ENST00000693560.1:c.1285G>T ENSP00000509861.1:p.Glu429Ter
ENST00000371953.8:c.766G>T MANE Select ENSP00000361021.3:p.Glu256Ter
ENST00000371953.7:c.766G>T ENSP00000361021.3:p.Glu256Ter
ENST00000472832.2:c.193G>T ENSP00000483066.1:p.Glu65Ter
NM_000314.5:c.766G>T NP_000305.3:p.Glu256Ter
NM_000314.6:c.766G>T NP_000305.3:p.Glu256Ter
NM_001304717.2:c.1285G>T NP_001291646.2:p.Glu429Ter
NM_001304718.1:c.175G>T NP_001291647.1:p.Glu59Ter
XM_006717926.2:c.721G>T XP_006717989.1:p.Glu241Ter
XM_011539981.1:c.766G>T XP_011538283.1:p.Glu256Ter
XM_011539982.1:c.670G>T XP_011538284.1:p.Glu224Ter
XR_945791.1:n.1336G>T
NM_000314.7:c.766G>T NP_000305.3:p.Glu256Ter
NM_001304717.5:c.1285G>T NP_001291646.4:p.Glu429Ter
NM_001304718.2:c.175G>T NP_001291647.1:p.Glu59Ter
NM_000314.8:c.766G>T MANE Select NP_000305.3:p.Glu256Ter