Canonical Allele Identifier: CA377485769
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960988A>T , CM000672.2:g.87960988A>T GRCh38
NC_000010.10:g.89720745A>T , CM000672.1:g.89720745A>T GRCh37
NC_000010.9:g.89710725A>T NCBI36
NG_007466.2:g.102550A>T , LRG_311:g.102550A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.989A>T ENSP00000514759.2:p.Glu330Val
ENST00000710265.1:c.896A>T ENSP00000518161.1:p.Glu299Val
ENST00000472832.3:c.896A>T ENSP00000483066.2:p.Glu299Val
ENST00000688158.2:n.1631A>T
ENST00000688922.2:c.*726A>T ENSP00000508742.2:n.*726A>T
ENST00000700021.1:c.851A>T ENSP00000514757.1:p.Glu284Val
ENST00000700022.1:c.*235A>T ENSP00000514758.1:n.*235A>T
ENST00000700023.1:n.2054A>T
ENST00000700024.1:n.2288A>T
ENST00000700025.1:n.1665A>T
ENST00000700026.1:n.533A>T
ENST00000706954.1:c.896A>T ENSP00000516674.1:p.Glu299Val
ENST00000706955.1:c.*931A>T ENSP00000516675.1:n.*931A>T
ENST00000686459.1:c.*482A>T ENSP00000508909.1:n.*482A>T
ENST00000688158.1:c.*1007A>T ENSP00000509254.1:n.*1007A>T
ENST00000688308.1:c.896A>T ENSP00000508752.1:p.Glu299Val
ENST00000688922.1:c.817A>T
ENST00000693560.1:c.1415A>T ENSP00000509861.1:p.Glu472Val
ENST00000371953.8:c.896A>T MANE Select ENSP00000361021.3:p.Glu299Val
ENST00000371953.7:c.896A>T ENSP00000361021.3:p.Glu299Val
ENST00000472832.2:c.323A>T ENSP00000483066.1:p.Glu108Val
NM_000314.5:c.896A>T NP_000305.3:p.Glu299Val
NM_000314.6:c.896A>T NP_000305.3:p.Glu299Val
NM_001304717.2:c.1415A>T NP_001291646.2:p.Glu472Val
NM_001304718.1:c.305A>T NP_001291647.1:p.Glu102Val
XM_006717926.2:c.851A>T XP_006717989.1:p.Glu284Val
XM_011539981.1:c.896A>T XP_011538283.1:p.Glu299Val
XM_011539982.1:c.800A>T XP_011538284.1:p.Glu267Val
XR_945791.1:n.1466A>T
NM_000314.7:c.896A>T NP_000305.3:p.Glu299Val
NM_001304717.5:c.1415A>T NP_001291646.4:p.Glu472Val
NM_001304718.2:c.305A>T NP_001291647.1:p.Glu102Val
NM_000314.8:c.896A>T MANE Select NP_000305.3:p.Glu299Val