Canonical Allele Identifier: CA377485082
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958006A>C , CM000672.2:g.87958006A>C GRCh38
NC_000010.10:g.89717763A>C , CM000672.1:g.89717763A>C GRCh37
NC_000010.9:g.89707743A>C NCBI36
NG_007466.2:g.99568A>C , LRG_311:g.99568A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.788A>C ENSP00000514759.2:p.Lys263Thr
ENST00000710265.1:c.788A>C ENSP00000518161.1:p.Lys263Thr
ENST00000472832.3:c.788A>C ENSP00000483066.2:p.Lys263Thr
ENST00000688158.2:n.1523A>C
ENST00000688922.2:c.*618A>C ENSP00000508742.2:n.*618A>C
ENST00000700021.1:c.743A>C ENSP00000514757.1:p.Lys248Thr
ENST00000700022.1:c.*127A>C ENSP00000514758.1:n.*127A>C
ENST00000700023.1:n.1946A>C
ENST00000700024.1:n.2180A>C
ENST00000700025.1:n.1557A>C
ENST00000700026.1:n.425A>C
ENST00000700029.1:c.622A>C
ENST00000706954.1:c.788A>C ENSP00000516674.1:p.Lys263Thr
ENST00000706955.1:c.*823A>C ENSP00000516675.1:n.*823A>C
ENST00000686459.1:c.*374A>C ENSP00000508909.1:n.*374A>C
ENST00000688158.1:c.*899A>C ENSP00000509254.1:n.*899A>C
ENST00000688308.1:c.788A>C ENSP00000508752.1:p.Lys263Thr
ENST00000688922.1:c.709A>C
ENST00000693560.1:c.1307A>C ENSP00000509861.1:p.Lys436Thr
ENST00000371953.8:c.788A>C MANE Select ENSP00000361021.3:p.Lys263Thr
ENST00000371953.7:c.788A>C ENSP00000361021.3:p.Lys263Thr
ENST00000472832.2:c.215A>C ENSP00000483066.1:p.Lys72Thr
NM_000314.5:c.788A>C NP_000305.3:p.Lys263Thr
NM_000314.6:c.788A>C NP_000305.3:p.Lys263Thr
NM_001304717.2:c.1307A>C NP_001291646.2:p.Lys436Thr
NM_001304718.1:c.197A>C NP_001291647.1:p.Lys66Thr
XM_006717926.2:c.743A>C XP_006717989.1:p.Lys248Thr
XM_011539981.1:c.788A>C XP_011538283.1:p.Lys263Thr
XM_011539982.1:c.692A>C XP_011538284.1:p.Lys231Thr
XR_945791.1:n.1358A>C
NM_000314.7:c.788A>C NP_000305.3:p.Lys263Thr
NM_001304717.5:c.1307A>C NP_001291646.4:p.Lys436Thr
NM_001304718.2:c.197A>C NP_001291647.1:p.Lys66Thr
NM_000314.8:c.788A>C MANE Select NP_000305.3:p.Lys263Thr