Canonical Allele Identifier: CA059160
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 237639
dbSNP Id: rs758542021
COSMIC: COSM5056

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965353G>A , CM000672.2:g.87965353G>A GRCh38
NC_000010.10:g.89725110G>A , CM000672.1:g.89725110G>A GRCh37
NC_000010.9:g.89715090G>A NCBI36
NG_007466.2:g.106915G>A , LRG_311:g.106915G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1186G>A ENSP00000514759.2:p.Val396Ile
ENST00000710265.1:c.*122G>A ENSP00000518161.1:n.*122G>A
ENST00000688158.2:n.1828G>A
ENST00000688922.2:c.*923G>A ENSP00000508742.2:n.*923G>A
ENST00000700021.1:c.1048G>A ENSP00000514757.1:p.Val350Ile
ENST00000700022.1:c.*432G>A ENSP00000514758.1:n.*432G>A
ENST00000700023.1:n.2251G>A
ENST00000700024.1:n.2485G>A
ENST00000706954.1:c.1093G>A ENSP00000516674.1:p.Val365Ile
ENST00000706955.1:c.*1128G>A ENSP00000516675.1:n.*1128G>A
ENST00000686459.1:c.*679G>A ENSP00000508909.1:n.*679G>A
ENST00000688158.1:c.*1204G>A ENSP00000509254.1:n.*1204G>A
ENST00000688308.1:c.1093G>A ENSP00000508752.1:p.Val365Ile
ENST00000688922.1:c.1014G>A
ENST00000693560.1:c.1612G>A ENSP00000509861.1:p.Val538Ile
ENST00000371953.8:c.1093G>A MANE Select ENSP00000361021.3:p.Val365Ile
ENST00000371953.7:c.1093G>A ENSP00000361021.3:p.Val365Ile
NM_000314.5:c.1093G>A NP_000305.3:p.Val365Ile
NM_000314.6:c.1093G>A NP_000305.3:p.Val365Ile
NM_001304717.2:c.1612G>A NP_001291646.2:p.Val538Ile
NM_001304718.1:c.502G>A NP_001291647.1:p.Val168Ile
XM_006717926.2:c.1048G>A XP_006717989.1:p.Val350Ile
XM_011539982.1:c.997G>A XP_011538284.1:p.Val333Ile
XR_945791.1:n.1663G>A
NM_000314.7:c.1093G>A NP_000305.3:p.Val365Ile
NM_001304717.5:c.1612G>A NP_001291646.4:p.Val538Ile
NM_001304718.2:c.502G>A NP_001291647.1:p.Val168Ile
NM_000314.8:c.1093G>A MANE Select NP_000305.3:p.Val365Ile