Canonical Allele Identifier: CA377482264
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 428222
dbSNP Id: rs1114167647

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933118C>A , CM000672.2:g.87933118C>A GRCh38
NC_000010.10:g.89692875C>A , CM000672.1:g.89692875C>A GRCh37
NC_000010.9:g.89682855C>A NCBI36
NG_007466.2:g.74680C>A , LRG_311:g.74680C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.359C>A ENSP00000514759.2:p.Ala120Glu
ENST00000710265.1:c.359C>A ENSP00000518161.1:p.Ala120Glu
ENST00000472832.3:c.359C>A ENSP00000483066.2:p.Ala120Glu
ENST00000688158.2:n.1094C>A
ENST00000688922.2:c.*189C>A ENSP00000508742.2:n.*189C>A
ENST00000700021.1:c.314C>A ENSP00000514757.1:p.Ala105Glu
ENST00000700022.1:c.359C>A ENSP00000514758.1:p.Ala120Glu
ENST00000700029.1:c.193C>A
ENST00000706954.1:c.359C>A ENSP00000516674.1:p.Ala120Glu
ENST00000706955.1:c.*394C>A ENSP00000516675.1:n.*394C>A
ENST00000686459.1:c.359C>A ENSP00000508909.1:p.Ala120Glu
ENST00000688158.1:c.*470C>A ENSP00000509254.1:n.*470C>A
ENST00000688308.1:c.359C>A ENSP00000508752.1:p.Ala120Glu
ENST00000688922.1:c.280C>A
ENST00000693560.1:c.878C>A ENSP00000509861.1:p.Ala293Glu
ENST00000371953.8:c.359C>A MANE Select ENSP00000361021.3:p.Ala120Glu
ENST00000371953.7:c.359C>A ENSP00000361021.3:p.Ala120Glu
ENST00000498703.1:n.185C>A
ENST00000610634.1:c.257C>A ENSP00000477517.1:p.Ala86Glu
NM_000314.5:c.359C>A NP_000305.3:p.Ala120Glu
NM_000314.6:c.359C>A NP_000305.3:p.Ala120Glu
NM_001304717.2:c.878C>A NP_001291646.2:p.Ala293Glu
NM_001304718.1:c.-392C>A NP_001291647.1:n.-392C>A
XM_006717926.2:c.314C>A XP_006717989.1:p.Ala105Glu
XM_011539981.1:c.359C>A XP_011538283.1:p.Ala120Glu
XM_011539982.1:c.263C>A XP_011538284.1:p.Ala88Glu
XR_945789.1:n.1071C>A
XR_945790.1:n.1071C>A
XR_945791.1:n.1071C>A
NM_000314.7:c.359C>A NP_000305.3:p.Ala120Glu
NM_001304717.5:c.878C>A NP_001291646.4:p.Ala293Glu
NM_001304718.2:c.-392C>A NP_001291647.1:n.-392C>A
NM_000314.8:c.359C>A MANE Select NP_000305.3:p.Ala120Glu