Canonical Allele Identifier: CA377485857
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2754132
ClinVar RCV Id: RCV003509985
dbSNP Id: rs1860626419

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961013G>C , CM000672.2:g.87961013G>C GRCh38
NC_000010.10:g.89720770G>C , CM000672.1:g.89720770G>C GRCh37
NC_000010.9:g.89710750G>C NCBI36
NG_007466.2:g.102575G>C , LRG_311:g.102575G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1014G>C ENSP00000514759.2:p.Glu338Asp
ENST00000710265.1:c.921G>C ENSP00000518161.1:p.Glu307Asp
ENST00000472832.3:c.921G>C ENSP00000483066.2:p.Glu307Asp
ENST00000688158.2:n.1656G>C
ENST00000688922.2:c.*751G>C ENSP00000508742.2:n.*751G>C
ENST00000700021.1:c.876G>C ENSP00000514757.1:p.Glu292Asp
ENST00000700022.1:c.*260G>C ENSP00000514758.1:n.*260G>C
ENST00000700023.1:n.2079G>C
ENST00000700024.1:n.2313G>C
ENST00000700025.1:n.1690G>C
ENST00000700026.1:n.558G>C
ENST00000706954.1:c.921G>C ENSP00000516674.1:p.Glu307Asp
ENST00000706955.1:c.*956G>C ENSP00000516675.1:n.*956G>C
ENST00000686459.1:c.*507G>C ENSP00000508909.1:n.*507G>C
ENST00000688158.1:c.*1032G>C ENSP00000509254.1:n.*1032G>C
ENST00000688308.1:c.921G>C ENSP00000508752.1:p.Glu307Asp
ENST00000688922.1:c.842G>C
ENST00000693560.1:c.1440G>C ENSP00000509861.1:p.Glu480Asp
ENST00000371953.8:c.921G>C MANE Select ENSP00000361021.3:p.Glu307Asp
ENST00000371953.7:c.921G>C ENSP00000361021.3:p.Glu307Asp
ENST00000472832.2:c.348G>C ENSP00000483066.1:p.Glu116Asp
NM_000314.5:c.921G>C NP_000305.3:p.Glu307Asp
NM_000314.6:c.921G>C NP_000305.3:p.Glu307Asp
NM_001304717.2:c.1440G>C NP_001291646.2:p.Glu480Asp
NM_001304718.1:c.330G>C NP_001291647.1:p.Glu110Asp
XM_006717926.2:c.876G>C XP_006717989.1:p.Glu292Asp
XM_011539981.1:c.921G>C XP_011538283.1:p.Glu307Asp
XM_011539982.1:c.825G>C XP_011538284.1:p.Glu275Asp
XR_945791.1:n.1491G>C
NM_000314.7:c.921G>C NP_000305.3:p.Glu307Asp
NM_001304717.5:c.1440G>C NP_001291646.4:p.Glu480Asp
NM_001304718.2:c.330G>C NP_001291647.1:p.Glu110Asp
NM_000314.8:c.921G>C MANE Select NP_000305.3:p.Glu307Asp