Canonical Allele Identifier: CA377482114
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933049A>C , CM000672.2:g.87933049A>C GRCh38
NC_000010.10:g.89692806A>C , CM000672.1:g.89692806A>C GRCh37
NC_000010.9:g.89682786A>C NCBI36
NG_007466.2:g.74611A>C , LRG_311:g.74611A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.290A>C ENSP00000514759.2:p.Gln97Pro
ENST00000710265.1:c.290A>C ENSP00000518161.1:p.Gln97Pro
ENST00000472832.3:c.290A>C ENSP00000483066.2:p.Gln97Pro
ENST00000688158.2:n.1025A>C
ENST00000688922.2:c.*120A>C ENSP00000508742.2:n.*120A>C
ENST00000700021.1:c.245A>C ENSP00000514757.1:p.Gln82Pro
ENST00000700022.1:c.290A>C ENSP00000514758.1:p.Gln97Pro
ENST00000700029.1:c.124A>C
ENST00000706954.1:c.290A>C ENSP00000516674.1:p.Gln97Pro
ENST00000706955.1:c.*325A>C ENSP00000516675.1:n.*325A>C
ENST00000686459.1:c.290A>C ENSP00000508909.1:p.Gln97Pro
ENST00000688158.1:c.*401A>C ENSP00000509254.1:n.*401A>C
ENST00000688308.1:c.290A>C ENSP00000508752.1:p.Gln97Pro
ENST00000688922.1:c.211A>C
ENST00000693560.1:c.809A>C ENSP00000509861.1:p.Gln270Pro
ENST00000371953.8:c.290A>C MANE Select ENSP00000361021.3:p.Gln97Pro
ENST00000371953.7:c.290A>C ENSP00000361021.3:p.Gln97Pro
ENST00000498703.1:n.116A>C
ENST00000610634.1:c.188A>C ENSP00000477517.1:p.Gln63Pro
NM_000314.5:c.290A>C NP_000305.3:p.Gln97Pro
NM_000314.6:c.290A>C NP_000305.3:p.Gln97Pro
NM_001304717.2:c.809A>C NP_001291646.2:p.Gln270Pro
NM_001304718.1:c.-461A>C NP_001291647.1:n.-461A>C
XM_006717926.2:c.245A>C XP_006717989.1:p.Gln82Pro
XM_011539981.1:c.290A>C XP_011538283.1:p.Gln97Pro
XM_011539982.1:c.194A>C XP_011538284.1:p.Gln65Pro
XR_945789.1:n.1002A>C
XR_945790.1:n.1002A>C
XR_945791.1:n.1002A>C
NM_000314.7:c.290A>C NP_000305.3:p.Gln97Pro
NM_001304717.5:c.809A>C NP_001291646.4:p.Gln270Pro
NM_001304718.2:c.-461A>C NP_001291647.1:n.-461A>C
NM_000314.8:c.290A>C MANE Select NP_000305.3:p.Gln97Pro