Canonical Allele Identifier: CA000253

Gene: PTEN

Linked Data

• ClinVar Variation Id: 189511
• ClinVar RCV Id: RCV000515893 ; RCV000570522 ; RCV001578271 ; RCV002516536
• dbSNP Id: rs786201041
• COSMIC: COSM3441286
• MyVariant Identifiers: chr10:g.89720876G>C (hg19) ; chr10:g.87961119G>C (hg38)
• PubMed: PMID:11238682 ; PMID:12844284 ; PMID:15805158 ; PMID:17286265 ; PMID:17392703 ; PMID:17427195 ; PMID:19265751 ; PMID:19668082 ; PMID:20600018 ; PMID:21194675 ; PMID:22252256 ; PMID:23695273 ; PMID:24136893 ; PMID:25022750 ; PMID:25132236 ; PMID:28677221
• MutSpliceDB: CA000253

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961119G>C , CM000672.2:g.87961119G>C	GRCh38
NC_000010.10:g.89720876G>C , CM000672.1:g.89720876G>C	GRCh37
NC_000010.9:g.89710856G>C	NCBI36
NG_007466.2:g.102681G>C , LRG_311:g.102681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1119+1G>C	ENSP00000514759.2:n.1119+1G>C
ENST00000710265.1:c.1026+1G>C	ENSP00000518161.1:n.1026+1G>C
ENST00000472832.3:c.1027G>C	ENSP00000483066.2:p.Val343Leu
ENST00000688158.2:n.1761+1G>C
ENST00000688922.2:c.*856+1G>C	ENSP00000508742.2:n.*856+1G>C
ENST00000700021.1:c.981+1G>C	ENSP00000514757.1:n.981+1G>C
ENST00000700022.1:c.*365+1G>C	ENSP00000514758.1:n.*365+1G>C
ENST00000700023.1:n.2184+1G>C
ENST00000700024.1:n.2418+1G>C
ENST00000700025.1:n.1796G>C
ENST00000700026.1:n.664G>C
ENST00000706954.1:c.1026+1G>C	ENSP00000516674.1:n.1026+1G>C
ENST00000706955.1:c.*1061+1G>C	ENSP00000516675.1:n.*1061+1G>C
ENST00000686459.1:c.*612+1G>C	ENSP00000508909.1:n.*612+1G>C
ENST00000688158.1:c.*1137+1G>C	ENSP00000509254.1:n.*1137+1G>C
ENST00000688308.1:c.1026+1G>C	ENSP00000508752.1:n.1026+1G>C
ENST00000688922.1:c.947+1G>C
ENST00000693560.1:c.1545+1G>C	ENSP00000509861.1:n.1545+1G>C
ENST00000371953.8:c.1026+1G>C MANE Select	ENSP00000361021.3:n.1026+1G>C
ENST00000371953.7:c.1026+1G>C	ENSP00000361021.3:n.1026+1G>C
ENST00000472832.2:c.454G>C	ENSP00000483066.1:p.Val152Leu
NM_000314.5:c.1026+1G>C	NP_000305.3:n.1026+1G>C
NM_000314.6:c.1026+1G>C	NP_000305.3:n.1026+1G>C
NM_001304717.2:c.1545+1G>C	NP_001291646.2:n.1545+1G>C
NM_001304718.1:c.435+1G>C	NP_001291647.1:n.435+1G>C
XM_006717926.2:c.981+1G>C	XP_006717989.1:n.981+1G>C
XM_011539981.1:c.1026+1G>C	XP_011538283.1:n.1026+1G>C
XM_011539982.1:c.930+1G>C	XP_011538284.1:n.930+1G>C
XR_945791.1:n.1596+1G>C
NM_000314.7:c.1026+1G>C	NP_000305.3:n.1026+1G>C
NM_001304717.5:c.1545+1G>C	NP_001291646.4:n.1545+1G>C
NM_001304718.2:c.435+1G>C	NP_001291647.1:n.435+1G>C
NM_000314.8:c.1026+1G>C MANE Select	NP_000305.3:n.1026+1G>C