Canonical Allele Identifier: CA377487357
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965408C>A , CM000672.2:g.87965408C>A GRCh38
NC_000010.10:g.89725165C>A , CM000672.1:g.89725165C>A GRCh37
NC_000010.9:g.89715145C>A NCBI36
NG_007466.2:g.106970C>A , LRG_311:g.106970C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1241C>A ENSP00000514759.2:p.Thr414Asn
ENST00000710265.1:c.*177C>A ENSP00000518161.1:n.*177C>A
ENST00000688158.2:n.1883C>A
ENST00000688922.2:c.*978C>A ENSP00000508742.2:n.*978C>A
ENST00000700021.1:c.1103C>A ENSP00000514757.1:p.Thr368Asn
ENST00000700022.1:c.*487C>A ENSP00000514758.1:n.*487C>A
ENST00000700023.1:n.2306C>A
ENST00000700024.1:n.2540C>A
ENST00000706954.1:c.1148C>A ENSP00000516674.1:p.Thr383Asn
ENST00000706955.1:c.*1183C>A ENSP00000516675.1:n.*1183C>A
ENST00000686459.1:c.*734C>A ENSP00000508909.1:n.*734C>A
ENST00000688158.1:c.*1259C>A ENSP00000509254.1:n.*1259C>A
ENST00000688308.1:c.1148C>A ENSP00000508752.1:p.Thr383Asn
ENST00000688922.1:c.1069C>A
ENST00000693560.1:c.1667C>A ENSP00000509861.1:p.Thr556Asn
ENST00000371953.8:c.1148C>A MANE Select ENSP00000361021.3:p.Thr383Asn
ENST00000371953.7:c.1148C>A ENSP00000361021.3:p.Thr383Asn
NM_000314.5:c.1148C>A NP_000305.3:p.Thr383Asn
NM_000314.6:c.1148C>A NP_000305.3:p.Thr383Asn
NM_001304717.2:c.1667C>A NP_001291646.2:p.Thr556Asn
NM_001304718.1:c.557C>A NP_001291647.1:p.Thr186Asn
XM_006717926.2:c.1103C>A XP_006717989.1:p.Thr368Asn
XM_011539982.1:c.1052C>A XP_011538284.1:p.Thr351Asn
XR_945791.1:n.1718C>A
NM_000314.7:c.1148C>A NP_000305.3:p.Thr383Asn
NM_001304717.5:c.1667C>A NP_001291646.4:p.Thr556Asn
NM_001304718.2:c.557C>A NP_001291647.1:p.Thr186Asn
NM_000314.8:c.1148C>A MANE Select NP_000305.3:p.Thr383Asn