Canonical Allele Identifier: CA377485024
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 623214
dbSNP Id: rs1564566998

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957982T>A , CM000672.2:g.87957982T>A GRCh38
NC_000010.10:g.89717739T>A , CM000672.1:g.89717739T>A GRCh37
NC_000010.9:g.89707719T>A NCBI36
NG_007466.2:g.99544T>A , LRG_311:g.99544T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.764T>A ENSP00000514759.2:p.Val255Glu
ENST00000710265.1:c.764T>A ENSP00000518161.1:p.Val255Glu
ENST00000472832.3:c.764T>A ENSP00000483066.2:p.Val255Glu
ENST00000688158.2:n.1499T>A
ENST00000688922.2:c.*594T>A ENSP00000508742.2:n.*594T>A
ENST00000700021.1:c.719T>A ENSP00000514757.1:p.Val240Glu
ENST00000700022.1:c.*103T>A ENSP00000514758.1:n.*103T>A
ENST00000700023.1:n.1922T>A
ENST00000700024.1:n.2156T>A
ENST00000700025.1:n.1533T>A
ENST00000700026.1:n.401T>A
ENST00000700029.1:c.598T>A
ENST00000706954.1:c.764T>A ENSP00000516674.1:p.Val255Glu
ENST00000706955.1:c.*799T>A ENSP00000516675.1:n.*799T>A
ENST00000686459.1:c.*350T>A ENSP00000508909.1:n.*350T>A
ENST00000688158.1:c.*875T>A ENSP00000509254.1:n.*875T>A
ENST00000688308.1:c.764T>A ENSP00000508752.1:p.Val255Glu
ENST00000688922.1:c.685T>A
ENST00000693560.1:c.1283T>A ENSP00000509861.1:p.Val428Glu
ENST00000371953.8:c.764T>A MANE Select ENSP00000361021.3:p.Val255Glu
ENST00000371953.7:c.764T>A ENSP00000361021.3:p.Val255Glu
ENST00000472832.2:c.191T>A ENSP00000483066.1:p.Val64Glu
NM_000314.5:c.764T>A NP_000305.3:p.Val255Glu
NM_000314.6:c.764T>A NP_000305.3:p.Val255Glu
NM_001304717.2:c.1283T>A NP_001291646.2:p.Val428Glu
NM_001304718.1:c.173T>A NP_001291647.1:p.Val58Glu
XM_006717926.2:c.719T>A XP_006717989.1:p.Val240Glu
XM_011539981.1:c.764T>A XP_011538283.1:p.Val255Glu
XM_011539982.1:c.668T>A XP_011538284.1:p.Val223Glu
XR_945791.1:n.1334T>A
NM_000314.7:c.764T>A NP_000305.3:p.Val255Glu
NM_001304717.5:c.1283T>A NP_001291646.4:p.Val428Glu
NM_001304718.2:c.173T>A NP_001291647.1:p.Val58Glu
NM_000314.8:c.764T>A MANE Select NP_000305.3:p.Val255Glu