Canonical Allele Identifier: CA377487353
Gene: PTEN HGNC NCBI

Linked Data

dbSNP Id: rs2132290046

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965407A>C , CM000672.2:g.87965407A>C GRCh38
NC_000010.10:g.89725164A>C , CM000672.1:g.89725164A>C GRCh37
NC_000010.9:g.89715144A>C NCBI36
NG_007466.2:g.106969A>C , LRG_311:g.106969A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1240A>C ENSP00000514759.2:p.Thr414Pro
ENST00000710265.1:c.*176A>C ENSP00000518161.1:n.*176A>C
ENST00000688158.2:n.1882A>C
ENST00000688922.2:c.*977A>C ENSP00000508742.2:n.*977A>C
ENST00000700021.1:c.1102A>C ENSP00000514757.1:p.Thr368Pro
ENST00000700022.1:c.*486A>C ENSP00000514758.1:n.*486A>C
ENST00000700023.1:n.2305A>C
ENST00000700024.1:n.2539A>C
ENST00000706954.1:c.1147A>C ENSP00000516674.1:p.Thr383Pro
ENST00000706955.1:c.*1182A>C ENSP00000516675.1:n.*1182A>C
ENST00000686459.1:c.*733A>C ENSP00000508909.1:n.*733A>C
ENST00000688158.1:c.*1258A>C ENSP00000509254.1:n.*1258A>C
ENST00000688308.1:c.1147A>C ENSP00000508752.1:p.Thr383Pro
ENST00000688922.1:c.1068A>C
ENST00000693560.1:c.1666A>C ENSP00000509861.1:p.Thr556Pro
ENST00000371953.8:c.1147A>C MANE Select ENSP00000361021.3:p.Thr383Pro
ENST00000371953.7:c.1147A>C ENSP00000361021.3:p.Thr383Pro
NM_000314.5:c.1147A>C NP_000305.3:p.Thr383Pro
NM_000314.6:c.1147A>C NP_000305.3:p.Thr383Pro
NM_001304717.2:c.1666A>C NP_001291646.2:p.Thr556Pro
NM_001304718.1:c.556A>C NP_001291647.1:p.Thr186Pro
XM_006717926.2:c.1102A>C XP_006717989.1:p.Thr368Pro
XM_011539982.1:c.1051A>C XP_011538284.1:p.Thr351Pro
XR_945791.1:n.1717A>C
NM_000314.7:c.1147A>C NP_000305.3:p.Thr383Pro
NM_001304717.5:c.1666A>C NP_001291646.4:p.Thr556Pro
NM_001304718.2:c.556A>C NP_001291647.1:p.Thr186Pro
NM_000314.8:c.1147A>C MANE Select NP_000305.3:p.Thr383Pro