Canonical Allele Identifier: CA377487478
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290348

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965459T>A , CM000672.2:g.87965459T>A GRCh38
NC_000010.10:g.89725216T>A , CM000672.1:g.89725216T>A GRCh37
NC_000010.9:g.89715196T>A NCBI36
NG_007466.2:g.107021T>A , LRG_311:g.107021T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1292T>A ENSP00000514759.2:p.Ile431Asn
ENST00000710265.1:c.*228T>A ENSP00000518161.1:n.*228T>A
ENST00000688158.2:n.1934T>A
ENST00000688922.2:c.*1029T>A ENSP00000508742.2:n.*1029T>A
ENST00000700021.1:c.1154T>A ENSP00000514757.1:p.Ile385Asn
ENST00000700022.1:c.*538T>A ENSP00000514758.1:n.*538T>A
ENST00000700023.1:n.2357T>A
ENST00000700024.1:n.2591T>A
ENST00000706954.1:c.1199T>A ENSP00000516674.1:p.Ile400Asn
ENST00000706955.1:c.*1234T>A ENSP00000516675.1:n.*1234T>A
ENST00000686459.1:c.*785T>A ENSP00000508909.1:n.*785T>A
ENST00000688158.1:c.*1310T>A ENSP00000509254.1:n.*1310T>A
ENST00000688308.1:c.1199T>A ENSP00000508752.1:p.Ile400Asn
ENST00000688922.1:c.1120T>A
ENST00000693560.1:c.1718T>A ENSP00000509861.1:p.Ile573Asn
ENST00000371953.8:c.1199T>A MANE Select ENSP00000361021.3:p.Ile400Asn
ENST00000371953.7:c.1199T>A ENSP00000361021.3:p.Ile400Asn
NM_000314.5:c.1199T>A NP_000305.3:p.Ile400Asn
NM_000314.6:c.1199T>A NP_000305.3:p.Ile400Asn
NM_001304717.2:c.1718T>A NP_001291646.2:p.Ile573Asn
NM_001304718.1:c.608T>A NP_001291647.1:p.Ile203Asn
XM_006717926.2:c.1154T>A XP_006717989.1:p.Ile385Asn
XM_011539982.1:c.1103T>A XP_011538284.1:p.Ile368Asn
XR_945791.1:n.1769T>A
NM_000314.7:c.1199T>A NP_000305.3:p.Ile400Asn
NM_001304717.5:c.1718T>A NP_001291646.4:p.Ile573Asn
NM_001304718.2:c.608T>A NP_001291647.1:p.Ile203Asn
NM_000314.8:c.1199T>A MANE Select NP_000305.3:p.Ile400Asn