Canonical Allele Identifier: CA377487345
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290018

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965403C>A , CM000672.2:g.87965403C>A GRCh38
NC_000010.10:g.89725160C>A , CM000672.1:g.89725160C>A GRCh37
NC_000010.9:g.89715140C>A NCBI36
NG_007466.2:g.106965C>A , LRG_311:g.106965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1236C>A ENSP00000514759.2:p.Asp412Glu
ENST00000710265.1:c.*172C>A ENSP00000518161.1:n.*172C>A
ENST00000688158.2:n.1878C>A
ENST00000688922.2:c.*973C>A ENSP00000508742.2:n.*973C>A
ENST00000700021.1:c.1098C>A ENSP00000514757.1:p.Asp366Glu
ENST00000700022.1:c.*482C>A ENSP00000514758.1:n.*482C>A
ENST00000700023.1:n.2301C>A
ENST00000700024.1:n.2535C>A
ENST00000706954.1:c.1143C>A ENSP00000516674.1:p.Asp381Glu
ENST00000706955.1:c.*1178C>A ENSP00000516675.1:n.*1178C>A
ENST00000686459.1:c.*729C>A ENSP00000508909.1:n.*729C>A
ENST00000688158.1:c.*1254C>A ENSP00000509254.1:n.*1254C>A
ENST00000688308.1:c.1143C>A ENSP00000508752.1:p.Asp381Glu
ENST00000688922.1:c.1064C>A
ENST00000693560.1:c.1662C>A ENSP00000509861.1:p.Asp554Glu
ENST00000371953.8:c.1143C>A MANE Select ENSP00000361021.3:p.Asp381Glu
ENST00000371953.7:c.1143C>A ENSP00000361021.3:p.Asp381Glu
NM_000314.5:c.1143C>A NP_000305.3:p.Asp381Glu
NM_000314.6:c.1143C>A NP_000305.3:p.Asp381Glu
NM_001304717.2:c.1662C>A NP_001291646.2:p.Asp554Glu
NM_001304718.1:c.552C>A NP_001291647.1:p.Asp184Glu
XM_006717926.2:c.1098C>A XP_006717989.1:p.Asp366Glu
XM_011539982.1:c.1047C>A XP_011538284.1:p.Asp349Glu
XR_945791.1:n.1713C>A
NM_000314.7:c.1143C>A NP_000305.3:p.Asp381Glu
NM_001304717.5:c.1662C>A NP_001291646.4:p.Asp554Glu
NM_001304718.2:c.552C>A NP_001291647.1:p.Asp184Glu
NM_000314.8:c.1143C>A MANE Select NP_000305.3:p.Asp381Glu