Canonical Allele Identifier: CA377487336
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965399C>A , CM000672.2:g.87965399C>A GRCh38
NC_000010.10:g.89725156C>A , CM000672.1:g.89725156C>A GRCh37
NC_000010.9:g.89715136C>A NCBI36
NG_007466.2:g.106961C>A , LRG_311:g.106961C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1232C>A ENSP00000514759.2:p.Ser411Tyr
ENST00000710265.1:c.*168C>A ENSP00000518161.1:n.*168C>A
ENST00000688158.2:n.1874C>A
ENST00000688922.2:c.*969C>A ENSP00000508742.2:n.*969C>A
ENST00000700021.1:c.1094C>A ENSP00000514757.1:p.Ser365Tyr
ENST00000700022.1:c.*478C>A ENSP00000514758.1:n.*478C>A
ENST00000700023.1:n.2297C>A
ENST00000700024.1:n.2531C>A
ENST00000706954.1:c.1139C>A ENSP00000516674.1:p.Ser380Tyr
ENST00000706955.1:c.*1174C>A ENSP00000516675.1:n.*1174C>A
ENST00000686459.1:c.*725C>A ENSP00000508909.1:n.*725C>A
ENST00000688158.1:c.*1250C>A ENSP00000509254.1:n.*1250C>A
ENST00000688308.1:c.1139C>A ENSP00000508752.1:p.Ser380Tyr
ENST00000688922.1:c.1060C>A
ENST00000693560.1:c.1658C>A ENSP00000509861.1:p.Ser553Tyr
ENST00000371953.8:c.1139C>A MANE Select ENSP00000361021.3:p.Ser380Tyr
ENST00000371953.7:c.1139C>A ENSP00000361021.3:p.Ser380Tyr
NM_000314.5:c.1139C>A NP_000305.3:p.Ser380Tyr
NM_000314.6:c.1139C>A NP_000305.3:p.Ser380Tyr
NM_001304717.2:c.1658C>A NP_001291646.2:p.Ser553Tyr
NM_001304718.1:c.548C>A NP_001291647.1:p.Ser183Tyr
XM_006717926.2:c.1094C>A XP_006717989.1:p.Ser365Tyr
XM_011539982.1:c.1043C>A XP_011538284.1:p.Ser348Tyr
XR_945791.1:n.1709C>A
NM_000314.7:c.1139C>A NP_000305.3:p.Ser380Tyr
NM_001304717.5:c.1658C>A NP_001291646.4:p.Ser553Tyr
NM_001304718.2:c.548C>A NP_001291647.1:p.Ser183Tyr
NM_000314.8:c.1139C>A MANE Select NP_000305.3:p.Ser380Tyr