Canonical Allele Identifier: CA377486100
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132283452

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961084A>T , CM000672.2:g.87961084A>T GRCh38
NC_000010.10:g.89720841A>T , CM000672.1:g.89720841A>T GRCh37
NC_000010.9:g.89710821A>T NCBI36
NG_007466.2:g.102646A>T , LRG_311:g.102646A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1085A>T ENSP00000514759.2:p.Asp362Val
ENST00000710265.1:c.992A>T ENSP00000518161.1:p.Asp331Val
ENST00000472832.3:c.992A>T ENSP00000483066.2:p.Asp331Val
ENST00000688158.2:n.1727A>T
ENST00000688922.2:c.*822A>T ENSP00000508742.2:n.*822A>T
ENST00000700021.1:c.947A>T ENSP00000514757.1:p.Asp316Val
ENST00000700022.1:c.*331A>T ENSP00000514758.1:n.*331A>T
ENST00000700023.1:n.2150A>T
ENST00000700024.1:n.2384A>T
ENST00000700025.1:n.1761A>T
ENST00000700026.1:n.629A>T
ENST00000706954.1:c.992A>T ENSP00000516674.1:p.Asp331Val
ENST00000706955.1:c.*1027A>T ENSP00000516675.1:n.*1027A>T
ENST00000686459.1:c.*578A>T ENSP00000508909.1:n.*578A>T
ENST00000688158.1:c.*1103A>T ENSP00000509254.1:n.*1103A>T
ENST00000688308.1:c.992A>T ENSP00000508752.1:p.Asp331Val
ENST00000688922.1:c.913A>T
ENST00000693560.1:c.1511A>T ENSP00000509861.1:p.Asp504Val
ENST00000371953.8:c.992A>T MANE Select ENSP00000361021.3:p.Asp331Val
ENST00000371953.7:c.992A>T ENSP00000361021.3:p.Asp331Val
ENST00000472832.2:c.419A>T ENSP00000483066.1:p.Asp140Val
NM_000314.5:c.992A>T NP_000305.3:p.Asp331Val
NM_000314.6:c.992A>T NP_000305.3:p.Asp331Val
NM_001304717.2:c.1511A>T NP_001291646.2:p.Asp504Val
NM_001304718.1:c.401A>T NP_001291647.1:p.Asp134Val
XM_006717926.2:c.947A>T XP_006717989.1:p.Asp316Val
XM_011539981.1:c.992A>T XP_011538283.1:p.Asp331Val
XM_011539982.1:c.896A>T XP_011538284.1:p.Asp299Val
XR_945791.1:n.1562A>T
NM_000314.7:c.992A>T NP_000305.3:p.Asp331Val
NM_001304717.5:c.1511A>T NP_001291646.4:p.Asp504Val
NM_001304718.2:c.401A>T NP_001291647.1:p.Asp134Val
NM_000314.8:c.992A>T MANE Select NP_000305.3:p.Asp331Val