Canonical Allele Identifier: CA377486098
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132283452

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1085A>C ENSP00000514759.2:p.Asp362Ala
ENST00000710265.1:c.992A>C ENSP00000518161.1:p.Asp331Ala
ENST00000472832.3:c.992A>C ENSP00000483066.2:p.Asp331Ala
ENST00000688158.2:n.1727A>C
ENST00000688922.2:c.*822A>C ENSP00000508742.2:n.*822A>C
ENST00000700021.1:c.947A>C ENSP00000514757.1:p.Asp316Ala
ENST00000700022.1:c.*331A>C ENSP00000514758.1:n.*331A>C
ENST00000700023.1:n.2150A>C
ENST00000700024.1:n.2384A>C
ENST00000700025.1:n.1761A>C
ENST00000700026.1:n.629A>C
ENST00000706954.1:c.992A>C ENSP00000516674.1:p.Asp331Ala
ENST00000706955.1:c.*1027A>C ENSP00000516675.1:n.*1027A>C
ENST00000686459.1:c.*578A>C ENSP00000508909.1:n.*578A>C
ENST00000688158.1:c.*1103A>C ENSP00000509254.1:n.*1103A>C
ENST00000688308.1:c.992A>C ENSP00000508752.1:p.Asp331Ala
ENST00000688922.1:c.913A>C
ENST00000693560.1:c.1511A>C ENSP00000509861.1:p.Asp504Ala
ENST00000371953.8:c.992A>C MANE Select ENSP00000361021.3:p.Asp331Ala
ENST00000371953.7:c.992A>C ENSP00000361021.3:p.Asp331Ala
ENST00000472832.2:c.419A>C ENSP00000483066.1:p.Asp140Ala
NM_000314.5:c.992A>C NP_000305.3:p.Asp331Ala
NM_000314.6:c.992A>C NP_000305.3:p.Asp331Ala
NM_001304717.2:c.1511A>C NP_001291646.2:p.Asp504Ala
NM_001304718.1:c.401A>C NP_001291647.1:p.Asp134Ala
XM_006717926.2:c.947A>C XP_006717989.1:p.Asp316Ala
XM_011539981.1:c.992A>C XP_011538283.1:p.Asp331Ala
XM_011539982.1:c.896A>C XP_011538284.1:p.Asp299Ala
XR_945791.1:n.1562A>C
NM_000314.7:c.992A>C NP_000305.3:p.Asp331Ala
NM_001304717.5:c.1511A>C NP_001291646.4:p.Asp504Ala
NM_001304718.2:c.401A>C NP_001291647.1:p.Asp134Ala
NM_000314.8:c.992A>C MANE Select NP_000305.3:p.Asp331Ala