Canonical Allele Identifier: CA377781916
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 2819090
ClinVar RCV Id: RCV003620824
dbSNP Id: rs1085308047

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87864509A>T , CM000672.2:g.87864509A>T GRCh38
NC_000010.10:g.89624266A>T , CM000672.1:g.89624266A>T GRCh37
NC_000010.9:g.89614246A>T NCBI36
NG_007466.2:g.6071A>T , LRG_311:g.6071A>T
NG_033079.1:g.3929T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.40A>T ENSP00000514759.2:p.Arg14Trp
ENST00000710265.1:c.40A>T ENSP00000518161.1:p.Arg14Trp
ENST00000472832.3:c.40A>T ENSP00000483066.2:p.Arg14Trp
ENST00000688922.2:c.40A>T ENSP00000508742.2:p.Arg14Trp
ENST00000700021.1:c.40A>T ENSP00000514757.1:p.Arg14Trp
ENST00000700022.1:c.40A>T ENSP00000514758.1:p.Arg14Trp
ENST00000706954.1:c.40A>T ENSP00000516674.1:p.Arg14Trp
ENST00000706955.1:c.40A>T ENSP00000516675.1:p.Arg14Trp
ENST00000686459.1:c.40A>T ENSP00000508909.1:p.Arg14Trp
ENST00000688158.1:c.40A>T ENSP00000509254.1:p.Arg14Trp
ENST00000688308.1:c.40A>T ENSP00000508752.1:p.Arg14Trp
ENST00000693560.1:c.559A>T ENSP00000509861.1:p.Arg187Trp
ENST00000371953.8:c.40A>T MANE Select ENSP00000361021.3:p.Arg14Trp
ENST00000371953.7:c.40A>T ENSP00000361021.3:p.Arg14Trp
ENST00000462694.1:n.42A>T
ENST00000487939.1:n.61A>T
ENST00000610634.1:c.-63A>T ENSP00000477517.1:n.-63A>T
ENST00000618586.1:n.9A>T
NM_000314.5:c.40A>T NP_000305.3:p.Arg14Trp
NM_000314.6:c.40A>T NP_000305.3:p.Arg14Trp
NM_001304717.2:c.559A>T NP_001291646.2:p.Arg187Trp
NM_001304718.1:c.-666A>T NP_001291647.1:n.-666A>T
XM_006717926.2:c.40A>T XP_006717989.1:p.Arg14Trp
XM_011539981.1:c.40A>T XP_011538283.1:p.Arg14Trp
XR_945789.1:n.752A>T
XR_945790.1:n.752A>T
XR_945791.1:n.752A>T
NM_000314.7:c.40A>T NP_000305.3:p.Arg14Trp
NM_001304717.5:c.559A>T NP_001291646.4:p.Arg187Trp
NM_001304718.2:c.-666A>T NP_001291647.1:n.-666A>T
NM_000314.8:c.40A>T MANE Select NP_000305.3:p.Arg14Trp