Canonical Allele Identifier: CA377487200
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965338A>C , CM000672.2:g.87965338A>C GRCh38
NC_000010.10:g.89725095A>C , CM000672.1:g.89725095A>C GRCh37
NC_000010.9:g.89715075A>C NCBI36
NG_007466.2:g.106900A>C , LRG_311:g.106900A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1171A>C ENSP00000514759.2:p.Ser391Arg
ENST00000710265.1:c.*107A>C ENSP00000518161.1:n.*107A>C
ENST00000688158.2:n.1813A>C
ENST00000688922.2:c.*908A>C ENSP00000508742.2:n.*908A>C
ENST00000700021.1:c.1033A>C ENSP00000514757.1:p.Ser345Arg
ENST00000700022.1:c.*417A>C ENSP00000514758.1:n.*417A>C
ENST00000700023.1:n.2236A>C
ENST00000700024.1:n.2470A>C
ENST00000706954.1:c.1078A>C ENSP00000516674.1:p.Ser360Arg
ENST00000706955.1:c.*1113A>C ENSP00000516675.1:n.*1113A>C
ENST00000686459.1:c.*664A>C ENSP00000508909.1:n.*664A>C
ENST00000688158.1:c.*1189A>C ENSP00000509254.1:n.*1189A>C
ENST00000688308.1:c.1078A>C ENSP00000508752.1:p.Ser360Arg
ENST00000688922.1:c.999A>C
ENST00000693560.1:c.1597A>C ENSP00000509861.1:p.Ser533Arg
ENST00000371953.8:c.1078A>C MANE Select ENSP00000361021.3:p.Ser360Arg
ENST00000371953.7:c.1078A>C ENSP00000361021.3:p.Ser360Arg
NM_000314.5:c.1078A>C NP_000305.3:p.Ser360Arg
NM_000314.6:c.1078A>C NP_000305.3:p.Ser360Arg
NM_001304717.2:c.1597A>C NP_001291646.2:p.Ser533Arg
NM_001304718.1:c.487A>C NP_001291647.1:p.Ser163Arg
XM_006717926.2:c.1033A>C XP_006717989.1:p.Ser345Arg
XM_011539982.1:c.982A>C XP_011538284.1:p.Ser328Arg
XR_945791.1:n.1648A>C
NM_000314.7:c.1078A>C NP_000305.3:p.Ser360Arg
NM_001304717.5:c.1597A>C NP_001291646.4:p.Ser533Arg
NM_001304718.2:c.487A>C NP_001291647.1:p.Ser163Arg
NM_000314.8:c.1078A>C MANE Select NP_000305.3:p.Ser360Arg