Canonical Allele Identifier: CA377481341
Gene: PTEN HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87931071G>C , CM000672.2:g.87931071G>C GRCh38
NC_000010.10:g.89690828G>C , CM000672.1:g.89690828G>C GRCh37
NC_000010.9:g.89680808G>C NCBI36
NG_007466.2:g.72633G>C , LRG_311:g.72633G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.235G>C ENSP00000514759.2:p.Ala79Pro
ENST00000710265.1:c.235G>C ENSP00000518161.1:p.Ala79Pro
ENST00000472832.3:c.235G>C ENSP00000483066.2:p.Ala79Pro
ENST00000688158.2:n.970G>C
ENST00000688922.2:c.*65G>C ENSP00000508742.2:n.*65G>C
ENST00000700021.1:c.190G>C ENSP00000514757.1:p.Ala64Pro
ENST00000700022.1:c.235G>C ENSP00000514758.1:p.Ala79Pro
ENST00000700029.1:c.69G>C
ENST00000706954.1:c.235G>C ENSP00000516674.1:p.Ala79Pro
ENST00000706955.1:c.*270G>C ENSP00000516675.1:n.*270G>C
ENST00000686459.1:c.235G>C ENSP00000508909.1:p.Ala79Pro
ENST00000688158.1:c.*346G>C ENSP00000509254.1:n.*346G>C
ENST00000688308.1:c.235G>C ENSP00000508752.1:p.Ala79Pro
ENST00000688922.1:c.156G>C
ENST00000693560.1:c.754G>C ENSP00000509861.1:p.Ala252Pro
ENST00000371953.8:c.235G>C MANE Select ENSP00000361021.3:p.Ala79Pro
ENST00000371953.7:c.235G>C ENSP00000361021.3:p.Ala79Pro
ENST00000498703.1:n.61G>C
ENST00000610634.1:c.133G>C ENSP00000477517.1:p.Ala45Pro
NM_000314.5:c.235G>C NP_000305.3:p.Ala79Pro
NM_000314.6:c.235G>C NP_000305.3:p.Ala79Pro
NM_001304717.2:c.754G>C NP_001291646.2:p.Ala252Pro
NM_001304718.1:c.-516G>C NP_001291647.1:n.-516G>C
XM_006717926.2:c.190G>C XP_006717989.1:p.Ala64Pro
XM_011539981.1:c.235G>C XP_011538283.1:p.Ala79Pro
XM_011539982.1:c.139G>C XP_011538284.1:p.Ala47Pro
XR_945789.1:n.947G>C
XR_945790.1:n.947G>C
XR_945791.1:n.947G>C
NM_000314.7:c.235G>C NP_000305.3:p.Ala79Pro
NM_001304717.5:c.754G>C NP_001291646.4:p.Ala252Pro
NM_001304718.2:c.-516G>C NP_001291647.1:n.-516G>C
NM_000314.8:c.235G>C MANE Select NP_000305.3:p.Ala79Pro