Canonical Allele Identifier: CA377487145
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965309C>T , CM000672.2:g.87965309C>T GRCh38
NC_000010.10:g.89725066C>T , CM000672.1:g.89725066C>T GRCh37
NC_000010.9:g.89715046C>T NCBI36
NG_007466.2:g.106871C>T , LRG_311:g.106871C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1142C>T ENSP00000514759.2:p.Thr381Ile
ENST00000710265.1:c.*78C>T ENSP00000518161.1:n.*78C>T
ENST00000688158.2:n.1784C>T
ENST00000688922.2:c.*879C>T ENSP00000508742.2:n.*879C>T
ENST00000700021.1:c.1004C>T ENSP00000514757.1:p.Thr335Ile
ENST00000700022.1:c.*388C>T ENSP00000514758.1:n.*388C>T
ENST00000700023.1:n.2207C>T
ENST00000700024.1:n.2441C>T
ENST00000706954.1:c.1049C>T ENSP00000516674.1:p.Thr350Ile
ENST00000706955.1:c.*1084C>T ENSP00000516675.1:n.*1084C>T
ENST00000686459.1:c.*635C>T ENSP00000508909.1:n.*635C>T
ENST00000688158.1:c.*1160C>T ENSP00000509254.1:n.*1160C>T
ENST00000688308.1:c.1049C>T ENSP00000508752.1:p.Thr350Ile
ENST00000688922.1:c.970C>T
ENST00000693560.1:c.1568C>T ENSP00000509861.1:p.Thr523Ile
ENST00000371953.8:c.1049C>T MANE Select ENSP00000361021.3:p.Thr350Ile
ENST00000371953.7:c.1049C>T ENSP00000361021.3:p.Thr350Ile
NM_000314.5:c.1049C>T NP_000305.3:p.Thr350Ile
NM_000314.6:c.1049C>T NP_000305.3:p.Thr350Ile
NM_001304717.2:c.1568C>T NP_001291646.2:p.Thr523Ile
NM_001304718.1:c.458C>T NP_001291647.1:p.Thr153Ile
XM_006717926.2:c.1004C>T XP_006717989.1:p.Thr335Ile
XM_011539982.1:c.953C>T XP_011538284.1:p.Thr318Ile
XR_945791.1:n.1619C>T
NM_000314.7:c.1049C>T NP_000305.3:p.Thr350Ile
NM_001304717.5:c.1568C>T NP_001291646.4:p.Thr523Ile
NM_001304718.2:c.458C>T NP_001291647.1:p.Thr153Ile
NM_000314.8:c.1049C>T MANE Select NP_000305.3:p.Thr350Ile