Canonical Allele Identifier: CA16619075
Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 420786
ClinVar RCV Id: RCV001722397
dbSNP Id: rs1064794700

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87965479T>G , CM000672.2:g.87965479T>G GRCh38
NC_000010.10:g.89725236T>G , CM000672.1:g.89725236T>G GRCh37
NC_000010.9:g.89715216T>G NCBI36
NG_007466.2:g.107041T>G , LRG_311:g.107041T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.*7T>G ENSP00000514759.2:n.*7T>G
ENST00000710265.1:c.*248T>G ENSP00000518161.1:n.*248T>G
ENST00000688158.2:n.1954T>G
ENST00000688922.2:c.*1049T>G ENSP00000508742.2:n.*1049T>G
ENST00000700021.1:c.*7T>G ENSP00000514757.1:n.*7T>G
ENST00000700022.1:c.*558T>G ENSP00000514758.1:n.*558T>G
ENST00000700023.1:n.2377T>G
ENST00000700024.1:n.2611T>G
ENST00000706954.1:c.*7T>G ENSP00000516674.1:n.*7T>G
ENST00000706955.1:c.*1254T>G ENSP00000516675.1:n.*1254T>G
ENST00000686459.1:c.*805T>G ENSP00000508909.1:n.*805T>G
ENST00000688158.1:c.*1330T>G ENSP00000509254.1:n.*1330T>G
ENST00000688308.1:c.*7T>G ENSP00000508752.1:n.*7T>G
ENST00000688922.1:c.1140T>G
ENST00000693560.1:c.*7T>G ENSP00000509861.1:n.*7T>G
ENST00000371953.8:c.*7T>G MANE Select ENSP00000361021.3:n.*7T>G
ENST00000371953.7:c.*7T>G ENSP00000361021.3:n.*7T>G
NM_000314.5:c.*7T>G NP_000305.3:n.*7T>G
NM_000314.6:c.*7T>G NP_000305.3:n.*7T>G
NM_001304717.2:c.*7T>G NP_001291646.2:n.*7T>G
NM_001304718.1:c.*7T>G NP_001291647.1:n.*7T>G
XM_006717926.2:c.*7T>G XP_006717989.1:n.*7T>G
XM_011539982.1:c.*7T>G XP_011538284.1:n.*7T>G
XR_945791.1:n.1789T>G
NM_000314.7:c.*7T>G NP_000305.3:n.*7T>G
NM_001304717.5:c.*7T>G NP_001291646.4:n.*7T>G
NM_001304718.2:c.*7T>G NP_001291647.1:n.*7T>G
NM_000314.8:c.*7T>G MANE Select NP_000305.3:n.*7T>G