Canonical Allele Identifier: CA377485069
Gene: PTEN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958000A>T , CM000672.2:g.87958000A>T GRCh38
NC_000010.10:g.89717757A>T , CM000672.1:g.89717757A>T GRCh37
NC_000010.9:g.89707737A>T NCBI36
NG_007466.2:g.99562A>T , LRG_311:g.99562A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.782A>T ENSP00000514759.2:p.Gln261Leu
ENST00000710265.1:c.782A>T ENSP00000518161.1:p.Gln261Leu
ENST00000472832.3:c.782A>T ENSP00000483066.2:p.Gln261Leu
ENST00000688158.2:n.1517A>T
ENST00000688922.2:c.*612A>T ENSP00000508742.2:n.*612A>T
ENST00000700021.1:c.737A>T ENSP00000514757.1:p.Gln246Leu
ENST00000700022.1:c.*121A>T ENSP00000514758.1:n.*121A>T
ENST00000700023.1:n.1940A>T
ENST00000700024.1:n.2174A>T
ENST00000700025.1:n.1551A>T
ENST00000700026.1:n.419A>T
ENST00000700029.1:c.616A>T
ENST00000706954.1:c.782A>T ENSP00000516674.1:p.Gln261Leu
ENST00000706955.1:c.*817A>T ENSP00000516675.1:n.*817A>T
ENST00000686459.1:c.*368A>T ENSP00000508909.1:n.*368A>T
ENST00000688158.1:c.*893A>T ENSP00000509254.1:n.*893A>T
ENST00000688308.1:c.782A>T ENSP00000508752.1:p.Gln261Leu
ENST00000688922.1:c.703A>T
ENST00000693560.1:c.1301A>T ENSP00000509861.1:p.Gln434Leu
ENST00000371953.8:c.782A>T MANE Select ENSP00000361021.3:p.Gln261Leu
ENST00000371953.7:c.782A>T ENSP00000361021.3:p.Gln261Leu
ENST00000472832.2:c.209A>T ENSP00000483066.1:p.Gln70Leu
NM_000314.5:c.782A>T NP_000305.3:p.Gln261Leu
NM_000314.6:c.782A>T NP_000305.3:p.Gln261Leu
NM_001304717.2:c.1301A>T NP_001291646.2:p.Gln434Leu
NM_001304718.1:c.191A>T NP_001291647.1:p.Gln64Leu
XM_006717926.2:c.737A>T XP_006717989.1:p.Gln246Leu
XM_011539981.1:c.782A>T XP_011538283.1:p.Gln261Leu
XM_011539982.1:c.686A>T XP_011538284.1:p.Gln229Leu
XR_945791.1:n.1352A>T
NM_000314.7:c.782A>T NP_000305.3:p.Gln261Leu
NM_001304717.5:c.1301A>T NP_001291646.4:p.Gln434Leu
NM_001304718.2:c.191A>T NP_001291647.1:p.Gln64Leu
NM_000314.8:c.782A>T MANE Select NP_000305.3:p.Gln261Leu