Canonical Allele Identifier: CA1926188500
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957861T= , CM000672.2:g.87957861T= GRCh38
NC_000010.10:g.89717618T= , CM000672.1:g.89717618T= GRCh37
NC_000010.9:g.89707598T= NCBI36
NG_007466.2:g.99423T= , LRG_311:g.99423T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.643T= ENSP00000514759.2:p.Phe215=
ENST00000710265.1:c.643T= ENSP00000518161.1:p.Phe215=
ENST00000472832.3:c.643T= ENSP00000483066.2:p.Phe215=
ENST00000688158.2:n.1378T=
ENST00000688922.2:c.*473T= ENSP00000508742.2:n.*473T=
ENST00000700021.1:c.598T= ENSP00000514757.1:p.Phe200=
ENST00000700022.1:c.501T= ENSP00000514758.1:p.Ser167=
ENST00000700023.1:n.1801T=
ENST00000700024.1:n.2035T=
ENST00000700025.1:n.1412T=
ENST00000700026.1:n.280T=
ENST00000700029.1:c.477T=
ENST00000706954.1:c.643T= ENSP00000516674.1:p.Phe215=
ENST00000706955.1:c.*678T= ENSP00000516675.1:n.*678T=
ENST00000686459.1:c.*229T= ENSP00000508909.1:n.*229T=
ENST00000688158.1:c.*754T= ENSP00000509254.1:n.*754T=
ENST00000688308.1:c.643T= ENSP00000508752.1:p.Phe215=
ENST00000688922.1:c.564T=
ENST00000693560.1:c.1162T= ENSP00000509861.1:p.Phe388=
ENST00000371953.8:c.643T= MANE Select ENSP00000361021.3:p.Phe215=
ENST00000371953.7:c.643T= ENSP00000361021.3:p.Phe215=
ENST00000472832.2:c.70T= ENSP00000483066.1:p.Phe24=
NM_000314.5:c.643T= NP_000305.3:p.Phe215=
NM_000314.6:c.643T= NP_000305.3:p.Phe215=
NM_001304717.2:c.1162T= NP_001291646.2:p.Phe388=
NM_001304718.1:c.52T= NP_001291647.1:p.Phe18=
XM_006717926.2:c.598T= XP_006717989.1:p.Phe200=
XM_011539981.1:c.643T= XP_011538283.1:p.Phe215=
XM_011539982.1:c.547T= XP_011538284.1:p.Phe183=
XR_945791.1:n.1213T=
NM_000314.7:c.643T= NP_000305.3:p.Phe215=
NM_001304717.5:c.1162T= NP_001291646.4:p.Phe388=
NM_001304718.2:c.52T= NP_001291647.1:p.Phe18=
NM_000314.8:c.643T= MANE Select NP_000305.3:p.Phe215=