Canonical Allele Identifier: CA377487380
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965418T>G , CM000672.2:g.87965418T>G GRCh38
NC_000010.10:g.89725175T>G , CM000672.1:g.89725175T>G GRCh37
NC_000010.9:g.89715155T>G NCBI36
NG_007466.2:g.106980T>G , LRG_311:g.106980T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1251T>G ENSP00000514759.2:p.Asp417Glu
ENST00000710265.1:c.*187T>G ENSP00000518161.1:n.*187T>G
ENST00000688158.2:n.1893T>G
ENST00000688922.2:c.*988T>G ENSP00000508742.2:n.*988T>G
ENST00000700021.1:c.1113T>G ENSP00000514757.1:p.Asp371Glu
ENST00000700022.1:c.*497T>G ENSP00000514758.1:n.*497T>G
ENST00000700023.1:n.2316T>G
ENST00000700024.1:n.2550T>G
ENST00000706954.1:c.1158T>G ENSP00000516674.1:p.Asp386Glu
ENST00000706955.1:c.*1193T>G ENSP00000516675.1:n.*1193T>G
ENST00000686459.1:c.*744T>G ENSP00000508909.1:n.*744T>G
ENST00000688158.1:c.*1269T>G ENSP00000509254.1:n.*1269T>G
ENST00000688308.1:c.1158T>G ENSP00000508752.1:p.Asp386Glu
ENST00000688922.1:c.1079T>G
ENST00000693560.1:c.1677T>G ENSP00000509861.1:p.Asp559Glu
ENST00000371953.8:c.1158T>G MANE Select ENSP00000361021.3:p.Asp386Glu
ENST00000371953.7:c.1158T>G ENSP00000361021.3:p.Asp386Glu
NM_000314.5:c.1158T>G NP_000305.3:p.Asp386Glu
NM_000314.6:c.1158T>G NP_000305.3:p.Asp386Glu
NM_001304717.2:c.1677T>G NP_001291646.2:p.Asp559Glu
NM_001304718.1:c.567T>G NP_001291647.1:p.Asp189Glu
XM_006717926.2:c.1113T>G XP_006717989.1:p.Asp371Glu
XM_011539982.1:c.1062T>G XP_011538284.1:p.Asp354Glu
XR_945791.1:n.1728T>G
NM_000314.7:c.1158T>G NP_000305.3:p.Asp386Glu
NM_001304717.5:c.1677T>G NP_001291646.4:p.Asp559Glu
NM_001304718.2:c.567T>G NP_001291647.1:p.Asp189Glu
NM_000314.8:c.1158T>G MANE Select NP_000305.3:p.Asp386Glu