Canonical Allele Identifier: CA377485029
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957985A>C , CM000672.2:g.87957985A>C GRCh38
NC_000010.10:g.89717742A>C , CM000672.1:g.89717742A>C GRCh37
NC_000010.9:g.89707722A>C NCBI36
NG_007466.2:g.99547A>C , LRG_311:g.99547A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.767A>C ENSP00000514759.2:p.Glu256Ala
ENST00000710265.1:c.767A>C ENSP00000518161.1:p.Glu256Ala
ENST00000472832.3:c.767A>C ENSP00000483066.2:p.Glu256Ala
ENST00000688158.2:n.1502A>C
ENST00000688922.2:c.*597A>C ENSP00000508742.2:n.*597A>C
ENST00000700021.1:c.722A>C ENSP00000514757.1:p.Glu241Ala
ENST00000700022.1:c.*106A>C ENSP00000514758.1:n.*106A>C
ENST00000700023.1:n.1925A>C
ENST00000700024.1:n.2159A>C
ENST00000700025.1:n.1536A>C
ENST00000700026.1:n.404A>C
ENST00000700029.1:c.601A>C
ENST00000706954.1:c.767A>C ENSP00000516674.1:p.Glu256Ala
ENST00000706955.1:c.*802A>C ENSP00000516675.1:n.*802A>C
ENST00000686459.1:c.*353A>C ENSP00000508909.1:n.*353A>C
ENST00000688158.1:c.*878A>C ENSP00000509254.1:n.*878A>C
ENST00000688308.1:c.767A>C ENSP00000508752.1:p.Glu256Ala
ENST00000688922.1:c.688A>C
ENST00000693560.1:c.1286A>C ENSP00000509861.1:p.Glu429Ala
ENST00000371953.8:c.767A>C MANE Select ENSP00000361021.3:p.Glu256Ala
ENST00000371953.7:c.767A>C ENSP00000361021.3:p.Glu256Ala
ENST00000472832.2:c.194A>C ENSP00000483066.1:p.Glu65Ala
NM_000314.5:c.767A>C NP_000305.3:p.Glu256Ala
NM_000314.6:c.767A>C NP_000305.3:p.Glu256Ala
NM_001304717.2:c.1286A>C NP_001291646.2:p.Glu429Ala
NM_001304718.1:c.176A>C NP_001291647.1:p.Glu59Ala
XM_006717926.2:c.722A>C XP_006717989.1:p.Glu241Ala
XM_011539981.1:c.767A>C XP_011538283.1:p.Glu256Ala
XM_011539982.1:c.671A>C XP_011538284.1:p.Glu224Ala
XR_945791.1:n.1337A>C
NM_000314.7:c.767A>C NP_000305.3:p.Glu256Ala
NM_001304717.5:c.1286A>C NP_001291646.4:p.Glu429Ala
NM_001304718.2:c.176A>C NP_001291647.1:p.Glu59Ala
NM_000314.8:c.767A>C MANE Select NP_000305.3:p.Glu256Ala