Canonical Allele Identifier: CA377485007
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957975A>G , CM000672.2:g.87957975A>G GRCh38
NC_000010.10:g.89717732A>G , CM000672.1:g.89717732A>G GRCh37
NC_000010.9:g.89707712A>G NCBI36
NG_007466.2:g.99537A>G , LRG_311:g.99537A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.757A>G ENSP00000514759.2:p.Ile253Val
ENST00000710265.1:c.757A>G ENSP00000518161.1:p.Ile253Val
ENST00000472832.3:c.757A>G ENSP00000483066.2:p.Ile253Val
ENST00000688158.2:n.1492A>G
ENST00000688922.2:c.*587A>G ENSP00000508742.2:n.*587A>G
ENST00000700021.1:c.712A>G ENSP00000514757.1:p.Ile238Val
ENST00000700022.1:c.*96A>G ENSP00000514758.1:n.*96A>G
ENST00000700023.1:n.1915A>G
ENST00000700024.1:n.2149A>G
ENST00000700025.1:n.1526A>G
ENST00000700026.1:n.394A>G
ENST00000700029.1:c.591A>G
ENST00000706954.1:c.757A>G ENSP00000516674.1:p.Ile253Val
ENST00000706955.1:c.*792A>G ENSP00000516675.1:n.*792A>G
ENST00000686459.1:c.*343A>G ENSP00000508909.1:n.*343A>G
ENST00000688158.1:c.*868A>G ENSP00000509254.1:n.*868A>G
ENST00000688308.1:c.757A>G ENSP00000508752.1:p.Ile253Val
ENST00000688922.1:c.678A>G
ENST00000693560.1:c.1276A>G ENSP00000509861.1:p.Ile426Val
ENST00000371953.8:c.757A>G MANE Select ENSP00000361021.3:p.Ile253Val
ENST00000371953.7:c.757A>G ENSP00000361021.3:p.Ile253Val
ENST00000472832.2:c.184A>G ENSP00000483066.1:p.Ile62Val
NM_000314.5:c.757A>G NP_000305.3:p.Ile253Val
NM_000314.6:c.757A>G NP_000305.3:p.Ile253Val
NM_001304717.2:c.1276A>G NP_001291646.2:p.Ile426Val
NM_001304718.1:c.166A>G NP_001291647.1:p.Ile56Val
XM_006717926.2:c.712A>G XP_006717989.1:p.Ile238Val
XM_011539981.1:c.757A>G XP_011538283.1:p.Ile253Val
XM_011539982.1:c.661A>G XP_011538284.1:p.Ile221Val
XR_945791.1:n.1327A>G
NM_000314.7:c.757A>G NP_000305.3:p.Ile253Val
NM_001304717.5:c.1276A>G NP_001291646.4:p.Ile426Val
NM_001304718.2:c.166A>G NP_001291647.1:p.Ile56Val
NM_000314.8:c.757A>G MANE Select NP_000305.3:p.Ile253Val