Canonical Allele Identifier: CA1926188596
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957977C= , CM000672.2:g.87957977C= GRCh38
NC_000010.10:g.89717734C= , CM000672.1:g.89717734C= GRCh37
NC_000010.9:g.89707714C= NCBI36
NG_007466.2:g.99539C= , LRG_311:g.99539C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.759C= ENSP00000514759.2:p.Ile253=
ENST00000710265.1:c.759C= ENSP00000518161.1:p.Ile253=
ENST00000472832.3:c.759C= ENSP00000483066.2:p.Ile253=
ENST00000688158.2:n.1494C=
ENST00000688922.2:c.*589C= ENSP00000508742.2:n.*589C=
ENST00000700021.1:c.714C= ENSP00000514757.1:p.Ile238=
ENST00000700022.1:c.*98C= ENSP00000514758.1:n.*98C=
ENST00000700023.1:n.1917C=
ENST00000700024.1:n.2151C=
ENST00000700025.1:n.1528C=
ENST00000700026.1:n.396C=
ENST00000700029.1:c.593C=
ENST00000706954.1:c.759C= ENSP00000516674.1:p.Ile253=
ENST00000706955.1:c.*794C= ENSP00000516675.1:n.*794C=
ENST00000686459.1:c.*345C= ENSP00000508909.1:n.*345C=
ENST00000688158.1:c.*870C= ENSP00000509254.1:n.*870C=
ENST00000688308.1:c.759C= ENSP00000508752.1:p.Ile253=
ENST00000688922.1:c.680C=
ENST00000693560.1:c.1278C= ENSP00000509861.1:p.Ile426=
ENST00000371953.8:c.759C= MANE Select ENSP00000361021.3:p.Ile253=
ENST00000371953.7:c.759C= ENSP00000361021.3:p.Ile253=
ENST00000472832.2:c.186C= ENSP00000483066.1:p.Ile62=
NM_000314.5:c.759C= NP_000305.3:p.Ile253=
NM_000314.6:c.759C= NP_000305.3:p.Ile253=
NM_001304717.2:c.1278C= NP_001291646.2:p.Ile426=
NM_001304718.1:c.168C= NP_001291647.1:p.Ile56=
XM_006717926.2:c.714C= XP_006717989.1:p.Ile238=
XM_011539981.1:c.759C= XP_011538283.1:p.Ile253=
XM_011539982.1:c.663C= XP_011538284.1:p.Ile221=
XR_945791.1:n.1329C=
NM_000314.7:c.759C= NP_000305.3:p.Ile253=
NM_001304717.5:c.1278C= NP_001291646.4:p.Ile426=
NM_001304718.2:c.168C= NP_001291647.1:p.Ile56=
NM_000314.8:c.759C= MANE Select NP_000305.3:p.Ile253=