Canonical Allele Identifier: CA377485770
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960989A>C , CM000672.2:g.87960989A>C GRCh38
NC_000010.10:g.89720746A>C , CM000672.1:g.89720746A>C GRCh37
NC_000010.9:g.89710726A>C NCBI36
NG_007466.2:g.102551A>C , LRG_311:g.102551A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.990A>C ENSP00000514759.2:p.Glu330Asp
ENST00000710265.1:c.897A>C ENSP00000518161.1:p.Glu299Asp
ENST00000472832.3:c.897A>C ENSP00000483066.2:p.Glu299Asp
ENST00000688158.2:n.1632A>C
ENST00000688922.2:c.*727A>C ENSP00000508742.2:n.*727A>C
ENST00000700021.1:c.852A>C ENSP00000514757.1:p.Glu284Asp
ENST00000700022.1:c.*236A>C ENSP00000514758.1:n.*236A>C
ENST00000700023.1:n.2055A>C
ENST00000700024.1:n.2289A>C
ENST00000700025.1:n.1666A>C
ENST00000700026.1:n.534A>C
ENST00000706954.1:c.897A>C ENSP00000516674.1:p.Glu299Asp
ENST00000706955.1:c.*932A>C ENSP00000516675.1:n.*932A>C
ENST00000686459.1:c.*483A>C ENSP00000508909.1:n.*483A>C
ENST00000688158.1:c.*1008A>C ENSP00000509254.1:n.*1008A>C
ENST00000688308.1:c.897A>C ENSP00000508752.1:p.Glu299Asp
ENST00000688922.1:c.818A>C
ENST00000693560.1:c.1416A>C ENSP00000509861.1:p.Glu472Asp
ENST00000371953.8:c.897A>C MANE Select ENSP00000361021.3:p.Glu299Asp
ENST00000371953.7:c.897A>C ENSP00000361021.3:p.Glu299Asp
ENST00000472832.2:c.324A>C ENSP00000483066.1:p.Glu108Asp
NM_000314.5:c.897A>C NP_000305.3:p.Glu299Asp
NM_000314.6:c.897A>C NP_000305.3:p.Glu299Asp
NM_001304717.2:c.1416A>C NP_001291646.2:p.Glu472Asp
NM_001304718.1:c.306A>C NP_001291647.1:p.Glu102Asp
XM_006717926.2:c.852A>C XP_006717989.1:p.Glu284Asp
XM_011539981.1:c.897A>C XP_011538283.1:p.Glu299Asp
XM_011539982.1:c.801A>C XP_011538284.1:p.Glu267Asp
XR_945791.1:n.1467A>C
NM_000314.7:c.897A>C NP_000305.3:p.Glu299Asp
NM_001304717.5:c.1416A>C NP_001291646.4:p.Glu472Asp
NM_001304718.2:c.306A>C NP_001291647.1:p.Glu102Asp
NM_000314.8:c.897A>C MANE Select NP_000305.3:p.Glu299Asp