Canonical Allele Identifier: CA377485600
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1860620187

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960944G>C , CM000672.2:g.87960944G>C GRCh38
NC_000010.10:g.89720701G>C , CM000672.1:g.89720701G>C GRCh37
NC_000010.9:g.89710681G>C NCBI36
NG_007466.2:g.102506G>C , LRG_311:g.102506G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.945G>C ENSP00000514759.2:p.Glu315Asp
ENST00000710265.1:c.852G>C ENSP00000518161.1:p.Glu284Asp
ENST00000472832.3:c.852G>C ENSP00000483066.2:p.Glu284Asp
ENST00000688158.2:n.1587G>C
ENST00000688922.2:c.*682G>C ENSP00000508742.2:n.*682G>C
ENST00000700021.1:c.807G>C ENSP00000514757.1:p.Glu269Asp
ENST00000700022.1:c.*191G>C ENSP00000514758.1:n.*191G>C
ENST00000700023.1:n.2010G>C
ENST00000700024.1:n.2244G>C
ENST00000700025.1:n.1621G>C
ENST00000700026.1:n.489G>C
ENST00000700029.1:c.779G>C
ENST00000706954.1:c.852G>C ENSP00000516674.1:p.Glu284Asp
ENST00000706955.1:c.*887G>C ENSP00000516675.1:n.*887G>C
ENST00000686459.1:c.*438G>C ENSP00000508909.1:n.*438G>C
ENST00000688158.1:c.*963G>C ENSP00000509254.1:n.*963G>C
ENST00000688308.1:c.852G>C ENSP00000508752.1:p.Glu284Asp
ENST00000688922.1:c.773G>C
ENST00000693560.1:c.1371G>C ENSP00000509861.1:p.Glu457Asp
ENST00000371953.8:c.852G>C MANE Select ENSP00000361021.3:p.Glu284Asp
ENST00000371953.7:c.852G>C ENSP00000361021.3:p.Glu284Asp
ENST00000472832.2:c.279G>C ENSP00000483066.1:p.Glu93Asp
NM_000314.5:c.852G>C NP_000305.3:p.Glu284Asp
NM_000314.6:c.852G>C NP_000305.3:p.Glu284Asp
NM_001304717.2:c.1371G>C NP_001291646.2:p.Glu457Asp
NM_001304718.1:c.261G>C NP_001291647.1:p.Glu87Asp
XM_006717926.2:c.807G>C XP_006717989.1:p.Glu269Asp
XM_011539981.1:c.852G>C XP_011538283.1:p.Glu284Asp
XM_011539982.1:c.756G>C XP_011538284.1:p.Glu252Asp
XR_945791.1:n.1422G>C
NM_000314.7:c.852G>C NP_000305.3:p.Glu284Asp
NM_001304717.5:c.1371G>C NP_001291646.4:p.Glu457Asp
NM_001304718.2:c.261G>C NP_001291647.1:p.Glu87Asp
NM_000314.8:c.852G>C MANE Select NP_000305.3:p.Glu284Asp