Canonical Allele Identifier: CA377487409
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs1057524010

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965430A>C , CM000672.2:g.87965430A>C GRCh38
NC_000010.10:g.89725187A>C , CM000672.1:g.89725187A>C GRCh37
NC_000010.9:g.89715167A>C NCBI36
NG_007466.2:g.106992A>C , LRG_311:g.106992A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1263A>C ENSP00000514759.2:p.Glu421Asp
ENST00000710265.1:c.*199A>C ENSP00000518161.1:n.*199A>C
ENST00000688158.2:n.1905A>C
ENST00000688922.2:c.*1000A>C ENSP00000508742.2:n.*1000A>C
ENST00000700021.1:c.1125A>C ENSP00000514757.1:p.Glu375Asp
ENST00000700022.1:c.*509A>C ENSP00000514758.1:n.*509A>C
ENST00000700023.1:n.2328A>C
ENST00000700024.1:n.2562A>C
ENST00000706954.1:c.1170A>C ENSP00000516674.1:p.Glu390Asp
ENST00000706955.1:c.*1205A>C ENSP00000516675.1:n.*1205A>C
ENST00000686459.1:c.*756A>C ENSP00000508909.1:n.*756A>C
ENST00000688158.1:c.*1281A>C ENSP00000509254.1:n.*1281A>C
ENST00000688308.1:c.1170A>C ENSP00000508752.1:p.Glu390Asp
ENST00000688922.1:c.1091A>C
ENST00000693560.1:c.1689A>C ENSP00000509861.1:p.Glu563Asp
ENST00000371953.8:c.1170A>C MANE Select ENSP00000361021.3:p.Glu390Asp
ENST00000371953.7:c.1170A>C ENSP00000361021.3:p.Glu390Asp
NM_000314.5:c.1170A>C NP_000305.3:p.Glu390Asp
NM_000314.6:c.1170A>C NP_000305.3:p.Glu390Asp
NM_001304717.2:c.1689A>C NP_001291646.2:p.Glu563Asp
NM_001304718.1:c.579A>C NP_001291647.1:p.Glu193Asp
XM_006717926.2:c.1125A>C XP_006717989.1:p.Glu375Asp
XM_011539982.1:c.1074A>C XP_011538284.1:p.Glu358Asp
XR_945791.1:n.1740A>C
NM_000314.7:c.1170A>C NP_000305.3:p.Glu390Asp
NM_001304717.5:c.1689A>C NP_001291646.4:p.Glu563Asp
NM_001304718.2:c.579A>C NP_001291647.1:p.Glu193Asp
NM_000314.8:c.1170A>C MANE Select NP_000305.3:p.Glu390Asp