Canonical Allele Identifier: CA377485071
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 468713
ClinVar RCV Id: RCV000529559
dbSNP Id: rs760146269

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87958001G>T , CM000672.2:g.87958001G>T GRCh38
NC_000010.10:g.89717758G>T , CM000672.1:g.89717758G>T GRCh37
NC_000010.9:g.89707738G>T NCBI36
NG_007466.2:g.99563G>T , LRG_311:g.99563G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.783G>T ENSP00000514759.2:p.Gln261His
ENST00000710265.1:c.783G>T ENSP00000518161.1:p.Gln261His
ENST00000472832.3:c.783G>T ENSP00000483066.2:p.Gln261His
ENST00000688158.2:n.1518G>T
ENST00000688922.2:c.*613G>T ENSP00000508742.2:n.*613G>T
ENST00000700021.1:c.738G>T ENSP00000514757.1:p.Gln246His
ENST00000700022.1:c.*122G>T ENSP00000514758.1:n.*122G>T
ENST00000700023.1:n.1941G>T
ENST00000700024.1:n.2175G>T
ENST00000700025.1:n.1552G>T
ENST00000700026.1:n.420G>T
ENST00000700029.1:c.617G>T
ENST00000706954.1:c.783G>T ENSP00000516674.1:p.Gln261His
ENST00000706955.1:c.*818G>T ENSP00000516675.1:n.*818G>T
ENST00000686459.1:c.*369G>T ENSP00000508909.1:n.*369G>T
ENST00000688158.1:c.*894G>T ENSP00000509254.1:n.*894G>T
ENST00000688308.1:c.783G>T ENSP00000508752.1:p.Gln261His
ENST00000688922.1:c.704G>T
ENST00000693560.1:c.1302G>T ENSP00000509861.1:p.Gln434His
ENST00000371953.8:c.783G>T MANE Select ENSP00000361021.3:p.Gln261His
ENST00000371953.7:c.783G>T ENSP00000361021.3:p.Gln261His
ENST00000472832.2:c.210G>T ENSP00000483066.1:p.Gln70His
NM_000314.5:c.783G>T NP_000305.3:p.Gln261His
NM_000314.6:c.783G>T NP_000305.3:p.Gln261His
NM_001304717.2:c.1302G>T NP_001291646.2:p.Gln434His
NM_001304718.1:c.192G>T NP_001291647.1:p.Gln64His
XM_006717926.2:c.738G>T XP_006717989.1:p.Gln246His
XM_011539981.1:c.783G>T XP_011538283.1:p.Gln261His
XM_011539982.1:c.687G>T XP_011538284.1:p.Gln229His
XR_945791.1:n.1353G>T
NM_000314.7:c.783G>T NP_000305.3:p.Gln261His
NM_001304717.5:c.1302G>T NP_001291646.4:p.Gln434His
NM_001304718.2:c.192G>T NP_001291647.1:p.Gln64His
NM_000314.8:c.783G>T MANE Select NP_000305.3:p.Gln261His