Canonical Allele Identifier: CA377482169
Gene: PTEN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933075G>A , CM000672.2:g.87933075G>A GRCh38
NC_000010.10:g.89692832G>A , CM000672.1:g.89692832G>A GRCh37
NC_000010.9:g.89682812G>A NCBI36
NG_007466.2:g.74637G>A , LRG_311:g.74637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.316G>A ENSP00000514759.2:p.Glu106Lys
ENST00000710265.1:c.316G>A ENSP00000518161.1:p.Glu106Lys
ENST00000472832.3:c.316G>A ENSP00000483066.2:p.Glu106Lys
ENST00000688158.2:n.1051G>A
ENST00000688922.2:c.*146G>A ENSP00000508742.2:n.*146G>A
ENST00000700021.1:c.271G>A ENSP00000514757.1:p.Glu91Lys
ENST00000700022.1:c.316G>A ENSP00000514758.1:p.Glu106Lys
ENST00000700029.1:c.150G>A
ENST00000706954.1:c.316G>A ENSP00000516674.1:p.Glu106Lys
ENST00000706955.1:c.*351G>A ENSP00000516675.1:n.*351G>A
ENST00000686459.1:c.316G>A ENSP00000508909.1:p.Glu106Lys
ENST00000688158.1:c.*427G>A ENSP00000509254.1:n.*427G>A
ENST00000688308.1:c.316G>A ENSP00000508752.1:p.Glu106Lys
ENST00000688922.1:c.237G>A
ENST00000693560.1:c.835G>A ENSP00000509861.1:p.Glu279Lys
ENST00000371953.8:c.316G>A MANE Select ENSP00000361021.3:p.Glu106Lys
ENST00000371953.7:c.316G>A ENSP00000361021.3:p.Glu106Lys
ENST00000498703.1:n.142G>A
ENST00000610634.1:c.214G>A ENSP00000477517.1:p.Glu72Lys
NM_000314.5:c.316G>A NP_000305.3:p.Glu106Lys
NM_000314.6:c.316G>A NP_000305.3:p.Glu106Lys
NM_001304717.2:c.835G>A NP_001291646.2:p.Glu279Lys
NM_001304718.1:c.-435G>A NP_001291647.1:n.-435G>A
XM_006717926.2:c.271G>A XP_006717989.1:p.Glu91Lys
XM_011539981.1:c.316G>A XP_011538283.1:p.Glu106Lys
XM_011539982.1:c.220G>A XP_011538284.1:p.Glu74Lys
XR_945789.1:n.1028G>A
XR_945790.1:n.1028G>A
XR_945791.1:n.1028G>A
NM_000314.7:c.316G>A NP_000305.3:p.Glu106Lys
NM_001304717.5:c.835G>A NP_001291646.4:p.Glu279Lys
NM_001304718.2:c.-435G>A NP_001291647.1:n.-435G>A
NM_000314.8:c.316G>A MANE Select NP_000305.3:p.Glu106Lys