Canonical Allele Identifier: CA377484221
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1067498
dbSNP Id: rs587782603

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952118G>C , CM000672.2:g.87952118G>C GRCh38
NC_000010.10:g.89711875G>C , CM000672.1:g.89711875G>C GRCh37
NC_000010.9:g.89701855G>C NCBI36
NG_007466.2:g.93680G>C , LRG_311:g.93680G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.493G>C ENSP00000514759.2:p.Gly165Arg
ENST00000710265.1:c.493G>C ENSP00000518161.1:p.Gly165Arg
ENST00000472832.3:c.493G>C ENSP00000483066.2:p.Gly165Arg
ENST00000688158.2:n.1228G>C
ENST00000688922.2:c.*323G>C ENSP00000508742.2:n.*323G>C
ENST00000700021.1:c.448G>C ENSP00000514757.1:p.Gly150Arg
ENST00000700022.1:c.493-5735G>C ENSP00000514758.1:n.493-5735G>C
ENST00000700023.1:n.1651G>C
ENST00000700024.1:n.1885G>C
ENST00000700025.1:n.1262G>C
ENST00000700029.1:c.327G>C
ENST00000706954.1:c.493G>C ENSP00000516674.1:p.Gly165Arg
ENST00000706955.1:c.*528G>C ENSP00000516675.1:n.*528G>C
ENST00000686459.1:c.*79G>C ENSP00000508909.1:n.*79G>C
ENST00000688158.1:c.*604G>C ENSP00000509254.1:n.*604G>C
ENST00000688308.1:c.493G>C ENSP00000508752.1:p.Gly165Arg
ENST00000688922.1:c.414G>C
ENST00000693560.1:c.1012G>C ENSP00000509861.1:p.Gly338Arg
ENST00000371953.8:c.493G>C MANE Select ENSP00000361021.3:p.Gly165Arg
ENST00000371953.7:c.493G>C ENSP00000361021.3:p.Gly165Arg
NM_000314.5:c.493G>C NP_000305.3:p.Gly165Arg
NM_000314.6:c.493G>C NP_000305.3:p.Gly165Arg
NM_001304717.2:c.1012G>C NP_001291646.2:p.Gly338Arg
NM_001304718.1:c.-99G>C NP_001291647.1:n.-99G>C
XM_006717926.2:c.448G>C XP_006717989.1:p.Gly150Arg
XM_011539981.1:c.493G>C XP_011538283.1:p.Gly165Arg
XM_011539982.1:c.397G>C XP_011538284.1:p.Gly133Arg
XR_945789.1:n.1364G>C
XR_945790.1:n.1481G>C
XR_945791.1:n.1205-5735G>C
NM_000314.7:c.493G>C NP_000305.3:p.Gly165Arg
NM_001304717.5:c.1012G>C NP_001291646.4:p.Gly338Arg
NM_001304718.2:c.-99G>C NP_001291647.1:n.-99G>C
NM_000314.8:c.493G>C MANE Select NP_000305.3:p.Gly165Arg