Canonical Allele Identifier: CA377482342
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933162A>C , CM000672.2:g.87933162A>C GRCh38
NC_000010.10:g.89692919A>C , CM000672.1:g.89692919A>C GRCh37
NC_000010.9:g.89682899A>C NCBI36
NG_007466.2:g.74724A>C , LRG_311:g.74724A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.403A>C ENSP00000514759.2:p.Ile135Leu
ENST00000710265.1:c.403A>C ENSP00000518161.1:p.Ile135Leu
ENST00000472832.3:c.403A>C ENSP00000483066.2:p.Ile135Leu
ENST00000688158.2:n.1138A>C
ENST00000688922.2:c.*233A>C ENSP00000508742.2:n.*233A>C
ENST00000700021.1:c.358A>C ENSP00000514757.1:p.Ile120Leu
ENST00000700022.1:c.403A>C ENSP00000514758.1:p.Ile135Leu
ENST00000700029.1:c.237A>C
ENST00000706954.1:c.403A>C ENSP00000516674.1:p.Ile135Leu
ENST00000706955.1:c.*438A>C ENSP00000516675.1:n.*438A>C
ENST00000686459.1:c.403A>C ENSP00000508909.1:p.Ile135Leu
ENST00000688158.1:c.*514A>C ENSP00000509254.1:n.*514A>C
ENST00000688308.1:c.403A>C ENSP00000508752.1:p.Ile135Leu
ENST00000688922.1:c.324A>C
ENST00000693560.1:c.922A>C ENSP00000509861.1:p.Ile308Leu
ENST00000371953.8:c.403A>C MANE Select ENSP00000361021.3:p.Ile135Leu
ENST00000371953.7:c.403A>C ENSP00000361021.3:p.Ile135Leu
ENST00000498703.1:n.229A>C
ENST00000610634.1:c.301A>C ENSP00000477517.1:p.Ile101Leu
NM_000314.5:c.403A>C NP_000305.3:p.Ile135Leu
NM_000314.6:c.403A>C NP_000305.3:p.Ile135Leu
NM_001304717.2:c.922A>C NP_001291646.2:p.Ile308Leu
NM_001304718.1:c.-348A>C NP_001291647.1:n.-348A>C
XM_006717926.2:c.358A>C XP_006717989.1:p.Ile120Leu
XM_011539981.1:c.403A>C XP_011538283.1:p.Ile135Leu
XM_011539982.1:c.307A>C XP_011538284.1:p.Ile103Leu
XR_945789.1:n.1115A>C
XR_945790.1:n.1115A>C
XR_945791.1:n.1115A>C
NM_000314.7:c.403A>C NP_000305.3:p.Ile135Leu
NM_001304717.5:c.922A>C NP_001291646.4:p.Ile308Leu
NM_001304718.2:c.-348A>C NP_001291647.1:n.-348A>C
NM_000314.8:c.403A>C MANE Select NP_000305.3:p.Ile135Leu