Canonical Allele Identifier: CA377485053
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132277657

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957994A>C , CM000672.2:g.87957994A>C GRCh38
NC_000010.10:g.89717751A>C , CM000672.1:g.89717751A>C GRCh37
NC_000010.9:g.89707731A>C NCBI36
NG_007466.2:g.99556A>C , LRG_311:g.99556A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.776A>C ENSP00000514759.2:p.His259Pro
ENST00000710265.1:c.776A>C ENSP00000518161.1:p.His259Pro
ENST00000472832.3:c.776A>C ENSP00000483066.2:p.His259Pro
ENST00000688158.2:n.1511A>C
ENST00000688922.2:c.*606A>C ENSP00000508742.2:n.*606A>C
ENST00000700021.1:c.731A>C ENSP00000514757.1:p.His244Pro
ENST00000700022.1:c.*115A>C ENSP00000514758.1:n.*115A>C
ENST00000700023.1:n.1934A>C
ENST00000700024.1:n.2168A>C
ENST00000700025.1:n.1545A>C
ENST00000700026.1:n.413A>C
ENST00000700029.1:c.610A>C
ENST00000706954.1:c.776A>C ENSP00000516674.1:p.His259Pro
ENST00000706955.1:c.*811A>C ENSP00000516675.1:n.*811A>C
ENST00000686459.1:c.*362A>C ENSP00000508909.1:n.*362A>C
ENST00000688158.1:c.*887A>C ENSP00000509254.1:n.*887A>C
ENST00000688308.1:c.776A>C ENSP00000508752.1:p.His259Pro
ENST00000688922.1:c.697A>C
ENST00000693560.1:c.1295A>C ENSP00000509861.1:p.His432Pro
ENST00000371953.8:c.776A>C MANE Select ENSP00000361021.3:p.His259Pro
ENST00000371953.7:c.776A>C ENSP00000361021.3:p.His259Pro
ENST00000472832.2:c.203A>C ENSP00000483066.1:p.His68Pro
NM_000314.5:c.776A>C NP_000305.3:p.His259Pro
NM_000314.6:c.776A>C NP_000305.3:p.His259Pro
NM_001304717.2:c.1295A>C NP_001291646.2:p.His432Pro
NM_001304718.1:c.185A>C NP_001291647.1:p.His62Pro
XM_006717926.2:c.731A>C XP_006717989.1:p.His244Pro
XM_011539981.1:c.776A>C XP_011538283.1:p.His259Pro
XM_011539982.1:c.680A>C XP_011538284.1:p.His227Pro
XR_945791.1:n.1346A>C
NM_000314.7:c.776A>C NP_000305.3:p.His259Pro
NM_001304717.5:c.1295A>C NP_001291646.4:p.His432Pro
NM_001304718.2:c.185A>C NP_001291647.1:p.His62Pro
NM_000314.8:c.776A>C MANE Select NP_000305.3:p.His259Pro