Canonical Allele Identifier: CA470669838
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 536568
dbSNP Id: rs1554825217

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957959A>G , CM000672.2:g.87957959A>G GRCh38
NC_000010.10:g.89717716A>G , CM000672.1:g.89717716A>G GRCh37
NC_000010.9:g.89707696A>G NCBI36
NG_007466.2:g.99521A>G , LRG_311:g.99521A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700029.2:c.741A>G ENSP00000514759.2:p.Leu247=
ENST00000710265.1:c.741A>G ENSP00000518161.1:p.Leu247=
ENST00000472832.3:c.741A>G ENSP00000483066.2:p.Leu247=
ENST00000688158.2:n.1476A>G
ENST00000688922.2:c.*571A>G ENSP00000508742.2:n.*571A>G
ENST00000700021.1:c.696A>G ENSP00000514757.1:p.Leu232=
ENST00000700022.1:c.*80A>G ENSP00000514758.1:n.*80A>G
ENST00000700023.1:n.1899A>G
ENST00000700024.1:n.2133A>G
ENST00000700025.1:n.1510A>G
ENST00000700026.1:n.378A>G
ENST00000700029.1:c.575A>G
ENST00000706954.1:c.741A>G ENSP00000516674.1:p.Leu247=
ENST00000706955.1:c.*776A>G ENSP00000516675.1:n.*776A>G
ENST00000686459.1:c.*327A>G ENSP00000508909.1:n.*327A>G
ENST00000688158.1:c.*852A>G ENSP00000509254.1:n.*852A>G
ENST00000688308.1:c.741A>G ENSP00000508752.1:p.Leu247=
ENST00000688922.1:c.662A>G
ENST00000693560.1:c.1260A>G ENSP00000509861.1:p.Leu420=
ENST00000371953.8:c.741A>G MANE Select ENSP00000361021.3:p.Leu247=
ENST00000371953.7:c.741A>G ENSP00000361021.3:p.Leu247=
ENST00000472832.2:c.168A>G ENSP00000483066.1:p.Leu56=
NM_000314.5:c.741A>G NP_000305.3:p.Leu247=
NM_000314.6:c.741A>G NP_000305.3:p.Leu247=
NM_001304717.2:c.1260A>G NP_001291646.2:p.Leu420=
NM_001304718.1:c.150A>G NP_001291647.1:p.Leu50=
XM_006717926.2:c.696A>G XP_006717989.1:p.Leu232=
XM_011539981.1:c.741A>G XP_011538283.1:p.Leu247=
XM_011539982.1:c.645A>G XP_011538284.1:p.Leu215=
XR_945791.1:n.1311A>G
NM_000314.7:c.741A>G NP_000305.3:p.Leu247=
NM_001304717.5:c.1260A>G NP_001291646.4:p.Leu420=
NM_001304718.2:c.150A>G NP_001291647.1:p.Leu50=
NM_000314.8:c.741A>G MANE Select NP_000305.3:p.Leu247=