Canonical Allele Identifier: CA000275
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 143020
dbSNP Id: rs375709098

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965321C>A , CM000672.2:g.87965321C>A GRCh38
NC_000010.10:g.89725078C>A , CM000672.1:g.89725078C>A GRCh37
NC_000010.9:g.89715058C>A NCBI36
NG_007466.2:g.106883C>A , LRG_311:g.106883C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1154C>A ENSP00000514759.2:p.Pro385Gln
ENST00000710265.1:c.*90C>A ENSP00000518161.1:n.*90C>A
ENST00000688158.2:n.1796C>A
ENST00000688922.2:c.*891C>A ENSP00000508742.2:n.*891C>A
ENST00000700021.1:c.1016C>A ENSP00000514757.1:p.Pro339Gln
ENST00000700022.1:c.*400C>A ENSP00000514758.1:n.*400C>A
ENST00000700023.1:n.2219C>A
ENST00000700024.1:n.2453C>A
ENST00000706954.1:c.1061C>A ENSP00000516674.1:p.Pro354Gln
ENST00000706955.1:c.*1096C>A ENSP00000516675.1:n.*1096C>A
ENST00000686459.1:c.*647C>A ENSP00000508909.1:n.*647C>A
ENST00000688158.1:c.*1172C>A ENSP00000509254.1:n.*1172C>A
ENST00000688308.1:c.1061C>A ENSP00000508752.1:p.Pro354Gln
ENST00000688922.1:c.982C>A
ENST00000693560.1:c.1580C>A ENSP00000509861.1:p.Pro527Gln
ENST00000371953.8:c.1061C>A MANE Select ENSP00000361021.3:p.Pro354Gln
ENST00000371953.7:c.1061C>A ENSP00000361021.3:p.Pro354Gln
NM_000314.5:c.1061C>A NP_000305.3:p.Pro354Gln
NM_000314.6:c.1061C>A NP_000305.3:p.Pro354Gln
NM_001304717.2:c.1580C>A NP_001291646.2:p.Pro527Gln
NM_001304718.1:c.470C>A NP_001291647.1:p.Pro157Gln
XM_006717926.2:c.1016C>A XP_006717989.1:p.Pro339Gln
XM_011539982.1:c.965C>A XP_011538284.1:p.Pro322Gln
XR_945791.1:n.1631C>A
NM_000314.7:c.1061C>A NP_000305.3:p.Pro354Gln
NM_001304717.5:c.1580C>A NP_001291646.4:p.Pro527Gln
NM_001304718.2:c.470C>A NP_001291647.1:p.Pro157Gln
NM_000314.8:c.1061C>A MANE Select NP_000305.3:p.Pro354Gln