Canonical Allele Identifier: CA377486044
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961063A>C , CM000672.2:g.87961063A>C GRCh38
NC_000010.10:g.89720820A>C , CM000672.1:g.89720820A>C GRCh37
NC_000010.9:g.89710800A>C NCBI36
NG_007466.2:g.102625A>C , LRG_311:g.102625A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1064A>C ENSP00000514759.2:p.Asp355Ala
ENST00000710265.1:c.971A>C ENSP00000518161.1:p.Asp324Ala
ENST00000472832.3:c.971A>C ENSP00000483066.2:p.Asp324Ala
ENST00000688158.2:n.1706A>C
ENST00000688922.2:c.*801A>C ENSP00000508742.2:n.*801A>C
ENST00000700021.1:c.926A>C ENSP00000514757.1:p.Asp309Ala
ENST00000700022.1:c.*310A>C ENSP00000514758.1:n.*310A>C
ENST00000700023.1:n.2129A>C
ENST00000700024.1:n.2363A>C
ENST00000700025.1:n.1740A>C
ENST00000700026.1:n.608A>C
ENST00000706954.1:c.971A>C ENSP00000516674.1:p.Asp324Ala
ENST00000706955.1:c.*1006A>C ENSP00000516675.1:n.*1006A>C
ENST00000686459.1:c.*557A>C ENSP00000508909.1:n.*557A>C
ENST00000688158.1:c.*1082A>C ENSP00000509254.1:n.*1082A>C
ENST00000688308.1:c.971A>C ENSP00000508752.1:p.Asp324Ala
ENST00000688922.1:c.892A>C
ENST00000693560.1:c.1490A>C ENSP00000509861.1:p.Asp497Ala
ENST00000371953.8:c.971A>C MANE Select ENSP00000361021.3:p.Asp324Ala
ENST00000371953.7:c.971A>C ENSP00000361021.3:p.Asp324Ala
ENST00000472832.2:c.398A>C ENSP00000483066.1:p.Asp133Ala
NM_000314.5:c.971A>C NP_000305.3:p.Asp324Ala
NM_000314.6:c.971A>C NP_000305.3:p.Asp324Ala
NM_001304717.2:c.1490A>C NP_001291646.2:p.Asp497Ala
NM_001304718.1:c.380A>C NP_001291647.1:p.Asp127Ala
XM_006717926.2:c.926A>C XP_006717989.1:p.Asp309Ala
XM_011539981.1:c.971A>C XP_011538283.1:p.Asp324Ala
XM_011539982.1:c.875A>C XP_011538284.1:p.Asp292Ala
XR_945791.1:n.1541A>C
NM_000314.7:c.971A>C NP_000305.3:p.Asp324Ala
NM_001304717.5:c.1490A>C NP_001291646.4:p.Asp497Ala
NM_001304718.2:c.380A>C NP_001291647.1:p.Asp127Ala
NM_000314.8:c.971A>C MANE Select NP_000305.3:p.Asp324Ala