Canonical Allele Identifier: CA377485084
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.788A>T ENSP00000514759.2:p.Lys263Met
ENST00000710265.1:c.788A>T ENSP00000518161.1:p.Lys263Met
ENST00000472832.3:c.788A>T ENSP00000483066.2:p.Lys263Met
ENST00000688158.2:n.1523A>T
ENST00000688922.2:c.*618A>T ENSP00000508742.2:n.*618A>T
ENST00000700021.1:c.743A>T ENSP00000514757.1:p.Lys248Met
ENST00000700022.1:c.*127A>T ENSP00000514758.1:n.*127A>T
ENST00000700023.1:n.1946A>T
ENST00000700024.1:n.2180A>T
ENST00000700025.1:n.1557A>T
ENST00000700026.1:n.425A>T
ENST00000700029.1:c.622A>T
ENST00000706954.1:c.788A>T ENSP00000516674.1:p.Lys263Met
ENST00000706955.1:c.*823A>T ENSP00000516675.1:n.*823A>T
ENST00000686459.1:c.*374A>T ENSP00000508909.1:n.*374A>T
ENST00000688158.1:c.*899A>T ENSP00000509254.1:n.*899A>T
ENST00000688308.1:c.788A>T ENSP00000508752.1:p.Lys263Met
ENST00000688922.1:c.709A>T
ENST00000693560.1:c.1307A>T ENSP00000509861.1:p.Lys436Met
ENST00000371953.8:c.788A>T MANE Select ENSP00000361021.3:p.Lys263Met
ENST00000371953.7:c.788A>T ENSP00000361021.3:p.Lys263Met
ENST00000472832.2:c.215A>T ENSP00000483066.1:p.Lys72Met
NM_000314.5:c.788A>T NP_000305.3:p.Lys263Met
NM_000314.6:c.788A>T NP_000305.3:p.Lys263Met
NM_001304717.2:c.1307A>T NP_001291646.2:p.Lys436Met
NM_001304718.1:c.197A>T NP_001291647.1:p.Lys66Met
XM_006717926.2:c.743A>T XP_006717989.1:p.Lys248Met
XM_011539981.1:c.788A>T XP_011538283.1:p.Lys263Met
XM_011539982.1:c.692A>T XP_011538284.1:p.Lys231Met
XR_945791.1:n.1358A>T
NM_000314.7:c.788A>T NP_000305.3:p.Lys263Met
NM_001304717.5:c.1307A>T NP_001291646.4:p.Lys436Met
NM_001304718.2:c.197A>T NP_001291647.1:p.Lys66Met
NM_000314.8:c.788A>T MANE Select NP_000305.3:p.Lys263Met