Canonical Allele Identifier: CA377785009
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87925527A>C , CM000672.2:g.87925527A>C GRCh38
NC_000010.10:g.89685284A>C , CM000672.1:g.89685284A>C GRCh37
NC_000010.9:g.89675264A>C NCBI36
NG_007466.2:g.67089A>C , LRG_311:g.67089A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.179A>C ENSP00000514759.2:p.Lys60Thr
ENST00000710265.1:c.179A>C ENSP00000518161.1:p.Lys60Thr
ENST00000472832.3:c.179A>C ENSP00000483066.2:p.Lys60Thr
ENST00000688158.2:n.914A>C
ENST00000688922.2:c.179A>C ENSP00000508742.2:p.Lys60Thr
ENST00000700021.1:c.165-5519A>C ENSP00000514757.1:n.165-5519A>C
ENST00000700022.1:c.179A>C ENSP00000514758.1:p.Lys60Thr
ENST00000700029.1:c.13A>C
ENST00000706954.1:c.179A>C ENSP00000516674.1:p.Lys60Thr
ENST00000706955.1:c.*214A>C ENSP00000516675.1:n.*214A>C
ENST00000686459.1:c.179A>C ENSP00000508909.1:p.Lys60Thr
ENST00000688158.1:c.*290A>C ENSP00000509254.1:n.*290A>C
ENST00000688308.1:c.179A>C ENSP00000508752.1:p.Lys60Thr
ENST00000688922.1:c.48A>C
ENST00000693560.1:c.698A>C ENSP00000509861.1:p.Lys233Thr
ENST00000371953.8:c.179A>C MANE Select ENSP00000361021.3:p.Lys60Thr
ENST00000371953.7:c.179A>C ENSP00000361021.3:p.Lys60Thr
ENST00000498703.1:n.5A>C
ENST00000610634.1:c.77A>C ENSP00000477517.1:p.Lys26Thr
NM_000314.5:c.179A>C NP_000305.3:p.Lys60Thr
NM_000314.6:c.179A>C NP_000305.3:p.Lys60Thr
NM_001304717.2:c.698A>C NP_001291646.2:p.Lys233Thr
NM_001304718.1:c.-541-5519A>C NP_001291647.1:n.-541-5519A>C
XM_006717926.2:c.165-5519A>C XP_006717989.1:n.165-5519A>C
XM_011539981.1:c.179A>C XP_011538283.1:p.Lys60Thr
XM_011539982.1:c.83A>C XP_011538284.1:p.Lys28Thr
XR_945789.1:n.891A>C
XR_945790.1:n.891A>C
XR_945791.1:n.891A>C
NM_000314.7:c.179A>C NP_000305.3:p.Lys60Thr
NM_001304717.5:c.698A>C NP_001291646.4:p.Lys233Thr
NM_001304718.2:c.-541-5519A>C NP_001291647.1:n.-541-5519A>C
NM_000314.8:c.179A>C MANE Select NP_000305.3:p.Lys60Thr