Canonical Allele Identifier: CA1926188594
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957976T= , CM000672.2:g.87957976T= GRCh38
NC_000010.10:g.89717733T= , CM000672.1:g.89717733T= GRCh37
NC_000010.9:g.89707713T= NCBI36
NG_007466.2:g.99538T= , LRG_311:g.99538T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.758T= ENSP00000514759.2:p.Ile253=
ENST00000710265.1:c.758T= ENSP00000518161.1:p.Ile253=
ENST00000472832.3:c.758T= ENSP00000483066.2:p.Ile253=
ENST00000688158.2:n.1493T=
ENST00000688922.2:c.*588T= ENSP00000508742.2:n.*588T=
ENST00000700021.1:c.713T= ENSP00000514757.1:p.Ile238=
ENST00000700022.1:c.*97T= ENSP00000514758.1:n.*97T=
ENST00000700023.1:n.1916T=
ENST00000700024.1:n.2150T=
ENST00000700025.1:n.1527T=
ENST00000700026.1:n.395T=
ENST00000700029.1:c.592T=
ENST00000706954.1:c.758T= ENSP00000516674.1:p.Ile253=
ENST00000706955.1:c.*793T= ENSP00000516675.1:n.*793T=
ENST00000686459.1:c.*344T= ENSP00000508909.1:n.*344T=
ENST00000688158.1:c.*869T= ENSP00000509254.1:n.*869T=
ENST00000688308.1:c.758T= ENSP00000508752.1:p.Ile253=
ENST00000688922.1:c.679T=
ENST00000693560.1:c.1277T= ENSP00000509861.1:p.Ile426=
ENST00000371953.8:c.758T= MANE Select ENSP00000361021.3:p.Ile253=
ENST00000371953.7:c.758T= ENSP00000361021.3:p.Ile253=
ENST00000472832.2:c.185T= ENSP00000483066.1:p.Ile62=
NM_000314.5:c.758T= NP_000305.3:p.Ile253=
NM_000314.6:c.758T= NP_000305.3:p.Ile253=
NM_001304717.2:c.1277T= NP_001291646.2:p.Ile426=
NM_001304718.1:c.167T= NP_001291647.1:p.Ile56=
XM_006717926.2:c.713T= XP_006717989.1:p.Ile238=
XM_011539981.1:c.758T= XP_011538283.1:p.Ile253=
XM_011539982.1:c.662T= XP_011538284.1:p.Ile221=
XR_945791.1:n.1328T=
NM_000314.7:c.758T= NP_000305.3:p.Ile253=
NM_001304717.5:c.1277T= NP_001291646.4:p.Ile426=
NM_001304718.2:c.167T= NP_001291647.1:p.Ile56=
NM_000314.8:c.758T= MANE Select NP_000305.3:p.Ile253=