Canonical Allele Identifier: CA000197
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 184505
dbSNP Id: rs786201506

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87864544G>A , CM000672.2:g.87864544G>A GRCh38
NC_000010.10:g.89624301G>A , CM000672.1:g.89624301G>A GRCh37
NC_000010.9:g.89614281G>A NCBI36
NG_007466.2:g.6106G>A , LRG_311:g.6106G>A
NG_033079.1:g.3894C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.75G>A ENSP00000514759.2:p.Leu25=
ENST00000710265.1:c.75G>A ENSP00000518161.1:p.Leu25=
ENST00000472832.3:c.75G>A ENSP00000483066.2:p.Leu25=
ENST00000688922.2:c.75G>A ENSP00000508742.2:p.Leu25=
ENST00000700021.1:c.75G>A ENSP00000514757.1:p.Leu25=
ENST00000700022.1:c.75G>A ENSP00000514758.1:p.Leu25=
ENST00000706954.1:c.75G>A ENSP00000516674.1:p.Leu25=
ENST00000706955.1:c.75G>A ENSP00000516675.1:p.Leu25=
ENST00000686459.1:c.75G>A ENSP00000508909.1:p.Leu25=
ENST00000688158.1:c.75G>A ENSP00000509254.1:p.Leu25=
ENST00000688308.1:c.75G>A ENSP00000508752.1:p.Leu25=
ENST00000693560.1:c.594G>A ENSP00000509861.1:p.Leu198=
ENST00000371953.8:c.75G>A MANE Select ENSP00000361021.3:p.Leu25=
ENST00000371953.7:c.75G>A ENSP00000361021.3:p.Leu25=
ENST00000462694.1:n.77G>A
ENST00000487939.1:n.96G>A
ENST00000610634.1:c.-28G>A ENSP00000477517.1:n.-28G>A
ENST00000618586.1:n.44G>A
NM_000314.5:c.75G>A NP_000305.3:p.Leu25=
NM_000314.6:c.75G>A NP_000305.3:p.Leu25=
NM_001304717.2:c.594G>A NP_001291646.2:p.Leu198=
NM_001304718.1:c.-631G>A NP_001291647.1:n.-631G>A
XM_006717926.2:c.75G>A XP_006717989.1:p.Leu25=
XM_011539981.1:c.75G>A XP_011538283.1:p.Leu25=
XR_945789.1:n.787G>A
XR_945790.1:n.787G>A
XR_945791.1:n.787G>A
NM_000314.7:c.75G>A NP_000305.3:p.Leu25=
NM_001304717.5:c.594G>A NP_001291646.4:p.Leu198=
NM_001304718.2:c.-631G>A NP_001291647.1:n.-631G>A
NM_000314.8:c.75G>A MANE Select NP_000305.3:p.Leu25=