Canonical Allele Identifier: CA377485110
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958017A>C , CM000672.2:g.87958017A>C GRCh38
NC_000010.10:g.89717774A>C , CM000672.1:g.89717774A>C GRCh37
NC_000010.9:g.89707754A>C NCBI36
NG_007466.2:g.99579A>C , LRG_311:g.99579A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.799A>C ENSP00000514759.2:p.Lys267Gln
ENST00000710265.1:c.799A>C ENSP00000518161.1:p.Lys267Gln
ENST00000472832.3:c.799A>C ENSP00000483066.2:p.Lys267Gln
ENST00000688158.2:n.1534A>C
ENST00000688922.2:c.*629A>C ENSP00000508742.2:n.*629A>C
ENST00000700021.1:c.754A>C ENSP00000514757.1:p.Lys252Gln
ENST00000700022.1:c.*138A>C ENSP00000514758.1:n.*138A>C
ENST00000700023.1:n.1957A>C
ENST00000700024.1:n.2191A>C
ENST00000700025.1:n.1568A>C
ENST00000700026.1:n.436A>C
ENST00000700029.1:c.633A>C
ENST00000706954.1:c.799A>C ENSP00000516674.1:p.Lys267Gln
ENST00000706955.1:c.*834A>C ENSP00000516675.1:n.*834A>C
ENST00000686459.1:c.*385A>C ENSP00000508909.1:n.*385A>C
ENST00000688158.1:c.*910A>C ENSP00000509254.1:n.*910A>C
ENST00000688308.1:c.799A>C ENSP00000508752.1:p.Lys267Gln
ENST00000688922.1:c.720A>C
ENST00000693560.1:c.1318A>C ENSP00000509861.1:p.Lys440Gln
ENST00000371953.8:c.799A>C MANE Select ENSP00000361021.3:p.Lys267Gln
ENST00000371953.7:c.799A>C ENSP00000361021.3:p.Lys267Gln
ENST00000472832.2:c.226A>C ENSP00000483066.1:p.Lys76Gln
NM_000314.5:c.799A>C NP_000305.3:p.Lys267Gln
NM_000314.6:c.799A>C NP_000305.3:p.Lys267Gln
NM_001304717.2:c.1318A>C NP_001291646.2:p.Lys440Gln
NM_001304718.1:c.208A>C NP_001291647.1:p.Lys70Gln
XM_006717926.2:c.754A>C XP_006717989.1:p.Lys252Gln
XM_011539981.1:c.799A>C XP_011538283.1:p.Lys267Gln
XM_011539982.1:c.703A>C XP_011538284.1:p.Lys235Gln
XR_945791.1:n.1369A>C
NM_000314.7:c.799A>C NP_000305.3:p.Lys267Gln
NM_001304717.5:c.1318A>C NP_001291646.4:p.Lys440Gln
NM_001304718.2:c.208A>C NP_001291647.1:p.Lys70Gln
NM_000314.8:c.799A>C MANE Select NP_000305.3:p.Lys267Gln