Canonical Allele Identifier: CA377485997

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428253
• ClinVar RCV Id: RCV000491324 ; RCV000995618 ; RCV001856937 ; RCV003449276 ; RCV003159592
• dbSNP Id: rs1114167667
• COSMIC: COSM28895
• MyVariant Identifiers: chr10:g.89720808T>G (hg19) ; chr10:g.87961051T>G (hg38)
• PubMed: PMID:12938083 ; PMID:24123798

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961051T>G , CM000672.2:g.87961051T>G	GRCh38
NC_000010.10:g.89720808T>G , CM000672.1:g.89720808T>G	GRCh37
NC_000010.9:g.89710788T>G	NCBI36
NG_007466.2:g.102613T>G , LRG_311:g.102613T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1052T>G	ENSP00000514759.2:p.Leu351Ter
ENST00000710265.1:c.959T>G	ENSP00000518161.1:p.Leu320Ter
ENST00000472832.3:c.959T>G	ENSP00000483066.2:p.Leu320Ter
ENST00000688158.2:n.1694T>G
ENST00000688922.2:c.*789T>G	ENSP00000508742.2:n.*789T>G
ENST00000700021.1:c.914T>G	ENSP00000514757.1:p.Leu305Ter
ENST00000700022.1:c.*298T>G	ENSP00000514758.1:n.*298T>G
ENST00000700023.1:n.2117T>G
ENST00000700024.1:n.2351T>G
ENST00000700025.1:n.1728T>G
ENST00000700026.1:n.596T>G
ENST00000706954.1:c.959T>G	ENSP00000516674.1:p.Leu320Ter
ENST00000706955.1:c.*994T>G	ENSP00000516675.1:n.*994T>G
ENST00000686459.1:c.*545T>G	ENSP00000508909.1:n.*545T>G
ENST00000688158.1:c.*1070T>G	ENSP00000509254.1:n.*1070T>G
ENST00000688308.1:c.959T>G	ENSP00000508752.1:p.Leu320Ter
ENST00000688922.1:c.880T>G
ENST00000693560.1:c.1478T>G	ENSP00000509861.1:p.Leu493Ter
ENST00000371953.8:c.959T>G MANE Select	ENSP00000361021.3:p.Leu320Ter
ENST00000371953.7:c.959T>G	ENSP00000361021.3:p.Leu320Ter
ENST00000472832.2:c.386T>G	ENSP00000483066.1:p.Leu129Ter
NM_000314.5:c.959T>G	NP_000305.3:p.Leu320Ter
NM_000314.6:c.959T>G	NP_000305.3:p.Leu320Ter
NM_001304717.2:c.1478T>G	NP_001291646.2:p.Leu493Ter
NM_001304718.1:c.368T>G	NP_001291647.1:p.Leu123Ter
XM_006717926.2:c.914T>G	XP_006717989.1:p.Leu305Ter
XM_011539981.1:c.959T>G	XP_011538283.1:p.Leu320Ter
XM_011539982.1:c.863T>G	XP_011538284.1:p.Leu288Ter
XR_945791.1:n.1529T>G
NM_000314.7:c.959T>G	NP_000305.3:p.Leu320Ter
NM_001304717.5:c.1478T>G	NP_001291646.4:p.Leu493Ter
NM_001304718.2:c.368T>G	NP_001291647.1:p.Leu123Ter
NM_000314.8:c.959T>G MANE Select	NP_000305.3:p.Leu320Ter