Canonical Allele Identifier: CA000496
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 189412
dbSNP Id: rs786204865

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87952137A>G , CM000672.2:g.87952137A>G GRCh38
NC_000010.10:g.89711894A>G , CM000672.1:g.89711894A>G GRCh37
NC_000010.9:g.89701874A>G NCBI36
NG_007466.2:g.93699A>G , LRG_311:g.93699A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.512A>G ENSP00000514759.2:p.Gln171Arg
ENST00000710265.1:c.512A>G ENSP00000518161.1:p.Gln171Arg
ENST00000472832.3:c.512A>G ENSP00000483066.2:p.Gln171Arg
ENST00000688158.2:n.1247A>G
ENST00000688922.2:c.*342A>G ENSP00000508742.2:n.*342A>G
ENST00000700021.1:c.467A>G ENSP00000514757.1:p.Gln156Arg
ENST00000700022.1:c.493-5716A>G ENSP00000514758.1:n.493-5716A>G
ENST00000700023.1:n.1670A>G
ENST00000700024.1:n.1904A>G
ENST00000700025.1:n.1281A>G
ENST00000700029.1:c.346A>G
ENST00000706954.1:c.512A>G ENSP00000516674.1:p.Gln171Arg
ENST00000706955.1:c.*547A>G ENSP00000516675.1:n.*547A>G
ENST00000686459.1:c.*98A>G ENSP00000508909.1:n.*98A>G
ENST00000688158.1:c.*623A>G ENSP00000509254.1:n.*623A>G
ENST00000688308.1:c.512A>G ENSP00000508752.1:p.Gln171Arg
ENST00000688922.1:c.433A>G
ENST00000693560.1:c.1031A>G ENSP00000509861.1:p.Gln344Arg
ENST00000371953.8:c.512A>G MANE Select ENSP00000361021.3:p.Gln171Arg
ENST00000371953.7:c.512A>G ENSP00000361021.3:p.Gln171Arg
NM_000314.5:c.512A>G NP_000305.3:p.Gln171Arg
NM_000314.6:c.512A>G NP_000305.3:p.Gln171Arg
NM_001304717.2:c.1031A>G NP_001291646.2:p.Gln344Arg
NM_001304718.1:c.-80A>G NP_001291647.1:n.-80A>G
XM_006717926.2:c.467A>G XP_006717989.1:p.Gln156Arg
XM_011539981.1:c.512A>G XP_011538283.1:p.Gln171Arg
XM_011539982.1:c.416A>G XP_011538284.1:p.Gln139Arg
XR_945789.1:n.1383A>G
XR_945790.1:n.1500A>G
XR_945791.1:n.1205-5716A>G
NM_000314.7:c.512A>G NP_000305.3:p.Gln171Arg
NM_001304717.5:c.1031A>G NP_001291646.4:p.Gln344Arg
NM_001304718.2:c.-80A>G NP_001291647.1:n.-80A>G
NM_000314.8:c.512A>G MANE Select NP_000305.3:p.Gln171Arg