Canonical Allele Identifier: CA377485672
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132282249

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87960963G>C , CM000672.2:g.87960963G>C GRCh38
NC_000010.10:g.89720720G>C , CM000672.1:g.89720720G>C GRCh37
NC_000010.9:g.89710700G>C NCBI36
NG_007466.2:g.102525G>C , LRG_311:g.102525G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.964G>C ENSP00000514759.2:p.Glu322Gln
ENST00000710265.1:c.871G>C ENSP00000518161.1:p.Glu291Gln
ENST00000472832.3:c.871G>C ENSP00000483066.2:p.Glu291Gln
ENST00000688158.2:n.1606G>C
ENST00000688922.2:c.*701G>C ENSP00000508742.2:n.*701G>C
ENST00000700021.1:c.826G>C ENSP00000514757.1:p.Glu276Gln
ENST00000700022.1:c.*210G>C ENSP00000514758.1:n.*210G>C
ENST00000700023.1:n.2029G>C
ENST00000700024.1:n.2263G>C
ENST00000700025.1:n.1640G>C
ENST00000700026.1:n.508G>C
ENST00000700029.1:c.798G>C
ENST00000706954.1:c.871G>C ENSP00000516674.1:p.Glu291Gln
ENST00000706955.1:c.*906G>C ENSP00000516675.1:n.*906G>C
ENST00000686459.1:c.*457G>C ENSP00000508909.1:n.*457G>C
ENST00000688158.1:c.*982G>C ENSP00000509254.1:n.*982G>C
ENST00000688308.1:c.871G>C ENSP00000508752.1:p.Glu291Gln
ENST00000688922.1:c.792G>C
ENST00000693560.1:c.1390G>C ENSP00000509861.1:p.Glu464Gln
ENST00000371953.8:c.871G>C MANE Select ENSP00000361021.3:p.Glu291Gln
ENST00000371953.7:c.871G>C ENSP00000361021.3:p.Glu291Gln
ENST00000472832.2:c.298G>C ENSP00000483066.1:p.Glu100Gln
NM_000314.5:c.871G>C NP_000305.3:p.Glu291Gln
NM_000314.6:c.871G>C NP_000305.3:p.Glu291Gln
NM_001304717.2:c.1390G>C NP_001291646.2:p.Glu464Gln
NM_001304718.1:c.280G>C NP_001291647.1:p.Glu94Gln
XM_006717926.2:c.826G>C XP_006717989.1:p.Glu276Gln
XM_011539981.1:c.871G>C XP_011538283.1:p.Glu291Gln
XM_011539982.1:c.775G>C XP_011538284.1:p.Glu259Gln
XR_945791.1:n.1441G>C
NM_000314.7:c.871G>C NP_000305.3:p.Glu291Gln
NM_001304717.5:c.1390G>C NP_001291646.4:p.Glu464Gln
NM_001304718.2:c.280G>C NP_001291647.1:p.Glu94Gln
NM_000314.8:c.871G>C MANE Select NP_000305.3:p.Glu291Gln