Canonical Allele Identifier: CA377485938
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961034A>C , CM000672.2:g.87961034A>C GRCh38
NC_000010.10:g.89720791A>C , CM000672.1:g.89720791A>C GRCh37
NC_000010.9:g.89710771A>C NCBI36
NG_007466.2:g.102596A>C , LRG_311:g.102596A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1035A>C ENSP00000514759.2:p.Glu345Asp
ENST00000710265.1:c.942A>C ENSP00000518161.1:p.Glu314Asp
ENST00000472832.3:c.942A>C ENSP00000483066.2:p.Glu314Asp
ENST00000688158.2:n.1677A>C
ENST00000688922.2:c.*772A>C ENSP00000508742.2:n.*772A>C
ENST00000700021.1:c.897A>C ENSP00000514757.1:p.Glu299Asp
ENST00000700022.1:c.*281A>C ENSP00000514758.1:n.*281A>C
ENST00000700023.1:n.2100A>C
ENST00000700024.1:n.2334A>C
ENST00000700025.1:n.1711A>C
ENST00000700026.1:n.579A>C
ENST00000706954.1:c.942A>C ENSP00000516674.1:p.Glu314Asp
ENST00000706955.1:c.*977A>C ENSP00000516675.1:n.*977A>C
ENST00000686459.1:c.*528A>C ENSP00000508909.1:n.*528A>C
ENST00000688158.1:c.*1053A>C ENSP00000509254.1:n.*1053A>C
ENST00000688308.1:c.942A>C ENSP00000508752.1:p.Glu314Asp
ENST00000688922.1:c.863A>C
ENST00000693560.1:c.1461A>C ENSP00000509861.1:p.Glu487Asp
ENST00000371953.8:c.942A>C MANE Select ENSP00000361021.3:p.Glu314Asp
ENST00000371953.7:c.942A>C ENSP00000361021.3:p.Glu314Asp
ENST00000472832.2:c.369A>C ENSP00000483066.1:p.Glu123Asp
NM_000314.5:c.942A>C NP_000305.3:p.Glu314Asp
NM_000314.6:c.942A>C NP_000305.3:p.Glu314Asp
NM_001304717.2:c.1461A>C NP_001291646.2:p.Glu487Asp
NM_001304718.1:c.351A>C NP_001291647.1:p.Glu117Asp
XM_006717926.2:c.897A>C XP_006717989.1:p.Glu299Asp
XM_011539981.1:c.942A>C XP_011538283.1:p.Glu314Asp
XM_011539982.1:c.846A>C XP_011538284.1:p.Glu282Asp
XR_945791.1:n.1512A>C
NM_000314.7:c.942A>C NP_000305.3:p.Glu314Asp
NM_001304717.5:c.1461A>C NP_001291646.4:p.Glu487Asp
NM_001304718.2:c.351A>C NP_001291647.1:p.Glu117Asp
NM_000314.8:c.942A>C MANE Select NP_000305.3:p.Glu314Asp