Canonical Allele Identifier: CA377487433
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290234

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965440G>C , CM000672.2:g.87965440G>C GRCh38
NC_000010.10:g.89725197G>C , CM000672.1:g.89725197G>C GRCh37
NC_000010.9:g.89715177G>C NCBI36
NG_007466.2:g.107002G>C , LRG_311:g.107002G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1273G>C ENSP00000514759.2:p.Glu425Gln
ENST00000710265.1:c.*209G>C ENSP00000518161.1:n.*209G>C
ENST00000688158.2:n.1915G>C
ENST00000688922.2:c.*1010G>C ENSP00000508742.2:n.*1010G>C
ENST00000700021.1:c.1135G>C ENSP00000514757.1:p.Glu379Gln
ENST00000700022.1:c.*519G>C ENSP00000514758.1:n.*519G>C
ENST00000700023.1:n.2338G>C
ENST00000700024.1:n.2572G>C
ENST00000706954.1:c.1180G>C ENSP00000516674.1:p.Glu394Gln
ENST00000706955.1:c.*1215G>C ENSP00000516675.1:n.*1215G>C
ENST00000686459.1:c.*766G>C ENSP00000508909.1:n.*766G>C
ENST00000688158.1:c.*1291G>C ENSP00000509254.1:n.*1291G>C
ENST00000688308.1:c.1180G>C ENSP00000508752.1:p.Glu394Gln
ENST00000688922.1:c.1101G>C
ENST00000693560.1:c.1699G>C ENSP00000509861.1:p.Glu567Gln
ENST00000371953.8:c.1180G>C MANE Select ENSP00000361021.3:p.Glu394Gln
ENST00000371953.7:c.1180G>C ENSP00000361021.3:p.Glu394Gln
NM_000314.5:c.1180G>C NP_000305.3:p.Glu394Gln
NM_000314.6:c.1180G>C NP_000305.3:p.Glu394Gln
NM_001304717.2:c.1699G>C NP_001291646.2:p.Glu567Gln
NM_001304718.1:c.589G>C NP_001291647.1:p.Glu197Gln
XM_006717926.2:c.1135G>C XP_006717989.1:p.Glu379Gln
XM_011539982.1:c.1084G>C XP_011538284.1:p.Glu362Gln
XR_945791.1:n.1750G>C
NM_000314.7:c.1180G>C NP_000305.3:p.Glu394Gln
NM_001304717.5:c.1699G>C NP_001291646.4:p.Glu567Gln
NM_001304718.2:c.589G>C NP_001291647.1:p.Glu197Gln
NM_000314.8:c.1180G>C MANE Select NP_000305.3:p.Glu394Gln