Canonical Allele Identifier: CA377482219
Gene: PTEN HGNC NCBI
MaveDb:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933097G>C , CM000672.2:g.87933097G>C GRCh38
NC_000010.10:g.89692854G>C , CM000672.1:g.89692854G>C GRCh37
NC_000010.9:g.89682834G>C NCBI36
NG_007466.2:g.74659G>C , LRG_311:g.74659G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.338G>C ENSP00000514759.2:p.Ser113Thr
ENST00000710265.1:c.338G>C ENSP00000518161.1:p.Ser113Thr
ENST00000472832.3:c.338G>C ENSP00000483066.2:p.Ser113Thr
ENST00000688158.2:n.1073G>C
ENST00000688922.2:c.*168G>C ENSP00000508742.2:n.*168G>C
ENST00000700021.1:c.293G>C ENSP00000514757.1:p.Ser98Thr
ENST00000700022.1:c.338G>C ENSP00000514758.1:p.Ser113Thr
ENST00000700029.1:c.172G>C
ENST00000706954.1:c.338G>C ENSP00000516674.1:p.Ser113Thr
ENST00000706955.1:c.*373G>C ENSP00000516675.1:n.*373G>C
ENST00000686459.1:c.338G>C ENSP00000508909.1:p.Ser113Thr
ENST00000688158.1:c.*449G>C ENSP00000509254.1:n.*449G>C
ENST00000688308.1:c.338G>C ENSP00000508752.1:p.Ser113Thr
ENST00000688922.1:c.259G>C
ENST00000693560.1:c.857G>C ENSP00000509861.1:p.Ser286Thr
ENST00000371953.8:c.338G>C MANE Select ENSP00000361021.3:p.Ser113Thr
ENST00000371953.7:c.338G>C ENSP00000361021.3:p.Ser113Thr
ENST00000498703.1:n.164G>C
ENST00000610634.1:c.236G>C ENSP00000477517.1:p.Ser79Thr
NM_000314.5:c.338G>C NP_000305.3:p.Ser113Thr
NM_000314.6:c.338G>C NP_000305.3:p.Ser113Thr
NM_001304717.2:c.857G>C NP_001291646.2:p.Ser286Thr
NM_001304718.1:c.-413G>C NP_001291647.1:n.-413G>C
XM_006717926.2:c.293G>C XP_006717989.1:p.Ser98Thr
XM_011539981.1:c.338G>C XP_011538283.1:p.Ser113Thr
XM_011539982.1:c.242G>C XP_011538284.1:p.Ser81Thr
XR_945789.1:n.1050G>C
XR_945790.1:n.1050G>C
XR_945791.1:n.1050G>C
NM_000314.7:c.338G>C NP_000305.3:p.Ser113Thr
NM_001304717.5:c.857G>C NP_001291646.4:p.Ser286Thr
NM_001304718.2:c.-413G>C NP_001291647.1:n.-413G>C
NM_000314.8:c.338G>C MANE Select NP_000305.3:p.Ser113Thr