Canonical Allele Identifier: CA377485954
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1767056
ClinVar RCV Id: RCV002374047
dbSNP Id: rs1554825577

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87961038C>G , CM000672.2:g.87961038C>G GRCh38
NC_000010.10:g.89720795C>G , CM000672.1:g.89720795C>G GRCh37
NC_000010.9:g.89710775C>G NCBI36
NG_007466.2:g.102600C>G , LRG_311:g.102600C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.1039C>G ENSP00000514759.2:p.Leu347Val
ENST00000710265.1:c.946C>G ENSP00000518161.1:p.Leu316Val
ENST00000472832.3:c.946C>G ENSP00000483066.2:p.Leu316Val
ENST00000688158.2:n.1681C>G
ENST00000688922.2:c.*776C>G ENSP00000508742.2:n.*776C>G
ENST00000700021.1:c.901C>G ENSP00000514757.1:p.Leu301Val
ENST00000700022.1:c.*285C>G ENSP00000514758.1:n.*285C>G
ENST00000700023.1:n.2104C>G
ENST00000700024.1:n.2338C>G
ENST00000700025.1:n.1715C>G
ENST00000700026.1:n.583C>G
ENST00000706954.1:c.946C>G ENSP00000516674.1:p.Leu316Val
ENST00000706955.1:c.*981C>G ENSP00000516675.1:n.*981C>G
ENST00000686459.1:c.*532C>G ENSP00000508909.1:n.*532C>G
ENST00000688158.1:c.*1057C>G ENSP00000509254.1:n.*1057C>G
ENST00000688308.1:c.946C>G ENSP00000508752.1:p.Leu316Val
ENST00000688922.1:c.867C>G
ENST00000693560.1:c.1465C>G ENSP00000509861.1:p.Leu489Val
ENST00000371953.8:c.946C>G MANE Select ENSP00000361021.3:p.Leu316Val
ENST00000371953.7:c.946C>G ENSP00000361021.3:p.Leu316Val
ENST00000472832.2:c.373C>G ENSP00000483066.1:p.Leu125Val
NM_000314.5:c.946C>G NP_000305.3:p.Leu316Val
NM_000314.6:c.946C>G NP_000305.3:p.Leu316Val
NM_001304717.2:c.1465C>G NP_001291646.2:p.Leu489Val
NM_001304718.1:c.355C>G NP_001291647.1:p.Leu119Val
XM_006717926.2:c.901C>G XP_006717989.1:p.Leu301Val
XM_011539981.1:c.946C>G XP_011538283.1:p.Leu316Val
XM_011539982.1:c.850C>G XP_011538284.1:p.Leu284Val
XR_945791.1:n.1516C>G
NM_000314.7:c.946C>G NP_000305.3:p.Leu316Val
NM_001304717.5:c.1465C>G NP_001291646.4:p.Leu489Val
NM_001304718.2:c.355C>G NP_001291647.1:p.Leu119Val
NM_000314.8:c.946C>G MANE Select NP_000305.3:p.Leu316Val