Canonical Allele Identifier: CA377485102
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 647926
dbSNP Id: rs1554825260
COSMIC: COSM428089

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958014A>T , CM000672.2:g.87958014A>T GRCh38
NC_000010.10:g.89717771A>T , CM000672.1:g.89717771A>T GRCh37
NC_000010.9:g.89707751A>T NCBI36
NG_007466.2:g.99576A>T , LRG_311:g.99576A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.796A>T ENSP00000514759.2:p.Lys266Ter
ENST00000710265.1:c.796A>T ENSP00000518161.1:p.Lys266Ter
ENST00000472832.3:c.796A>T ENSP00000483066.2:p.Lys266Ter
ENST00000688158.2:n.1531A>T
ENST00000688922.2:c.*626A>T ENSP00000508742.2:n.*626A>T
ENST00000700021.1:c.751A>T ENSP00000514757.1:p.Lys251Ter
ENST00000700022.1:c.*135A>T ENSP00000514758.1:n.*135A>T
ENST00000700023.1:n.1954A>T
ENST00000700024.1:n.2188A>T
ENST00000700025.1:n.1565A>T
ENST00000700026.1:n.433A>T
ENST00000700029.1:c.630A>T
ENST00000706954.1:c.796A>T ENSP00000516674.1:p.Lys266Ter
ENST00000706955.1:c.*831A>T ENSP00000516675.1:n.*831A>T
ENST00000686459.1:c.*382A>T ENSP00000508909.1:n.*382A>T
ENST00000688158.1:c.*907A>T ENSP00000509254.1:n.*907A>T
ENST00000688308.1:c.796A>T ENSP00000508752.1:p.Lys266Ter
ENST00000688922.1:c.717A>T
ENST00000693560.1:c.1315A>T ENSP00000509861.1:p.Lys439Ter
ENST00000371953.8:c.796A>T MANE Select ENSP00000361021.3:p.Lys266Ter
ENST00000371953.7:c.796A>T ENSP00000361021.3:p.Lys266Ter
ENST00000472832.2:c.223A>T ENSP00000483066.1:p.Lys75Ter
NM_000314.5:c.796A>T NP_000305.3:p.Lys266Ter
NM_000314.6:c.796A>T NP_000305.3:p.Lys266Ter
NM_001304717.2:c.1315A>T NP_001291646.2:p.Lys439Ter
NM_001304718.1:c.205A>T NP_001291647.1:p.Lys69Ter
XM_006717926.2:c.751A>T XP_006717989.1:p.Lys251Ter
XM_011539981.1:c.796A>T XP_011538283.1:p.Lys266Ter
XM_011539982.1:c.700A>T XP_011538284.1:p.Lys234Ter
XR_945791.1:n.1366A>T
NM_000314.7:c.796A>T NP_000305.3:p.Lys266Ter
NM_001304717.5:c.1315A>T NP_001291646.4:p.Lys439Ter
NM_001304718.2:c.205A>T NP_001291647.1:p.Lys69Ter
NM_000314.8:c.796A>T MANE Select NP_000305.3:p.Lys266Ter