Canonical Allele Identifier: CA377487435
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965441A>C , CM000672.2:g.87965441A>C GRCh38
NC_000010.10:g.89725198A>C , CM000672.1:g.89725198A>C GRCh37
NC_000010.9:g.89715178A>C NCBI36
NG_007466.2:g.107003A>C , LRG_311:g.107003A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1274A>C ENSP00000514759.2:p.Glu425Ala
ENST00000710265.1:c.*210A>C ENSP00000518161.1:n.*210A>C
ENST00000688158.2:n.1916A>C
ENST00000688922.2:c.*1011A>C ENSP00000508742.2:n.*1011A>C
ENST00000700021.1:c.1136A>C ENSP00000514757.1:p.Glu379Ala
ENST00000700022.1:c.*520A>C ENSP00000514758.1:n.*520A>C
ENST00000700023.1:n.2339A>C
ENST00000700024.1:n.2573A>C
ENST00000706954.1:c.1181A>C ENSP00000516674.1:p.Glu394Ala
ENST00000706955.1:c.*1216A>C ENSP00000516675.1:n.*1216A>C
ENST00000686459.1:c.*767A>C ENSP00000508909.1:n.*767A>C
ENST00000688158.1:c.*1292A>C ENSP00000509254.1:n.*1292A>C
ENST00000688308.1:c.1181A>C ENSP00000508752.1:p.Glu394Ala
ENST00000688922.1:c.1102A>C
ENST00000693560.1:c.1700A>C ENSP00000509861.1:p.Glu567Ala
ENST00000371953.8:c.1181A>C MANE Select ENSP00000361021.3:p.Glu394Ala
ENST00000371953.7:c.1181A>C ENSP00000361021.3:p.Glu394Ala
NM_000314.5:c.1181A>C NP_000305.3:p.Glu394Ala
NM_000314.6:c.1181A>C NP_000305.3:p.Glu394Ala
NM_001304717.2:c.1700A>C NP_001291646.2:p.Glu567Ala
NM_001304718.1:c.590A>C NP_001291647.1:p.Glu197Ala
XM_006717926.2:c.1136A>C XP_006717989.1:p.Glu379Ala
XM_011539982.1:c.1085A>C XP_011538284.1:p.Glu362Ala
XR_945791.1:n.1751A>C
NM_000314.7:c.1181A>C NP_000305.3:p.Glu394Ala
NM_001304717.5:c.1700A>C NP_001291646.4:p.Glu567Ala
NM_001304718.2:c.590A>C NP_001291647.1:p.Glu197Ala
NM_000314.8:c.1181A>C MANE Select NP_000305.3:p.Glu394Ala