Canonical Allele Identifier: CA000429

Gene: PTEN

Linked Data

• ClinVar Variation Id: 189484
• ClinVar RCV Id: RCV000169874 ; RCV000570808 ; RCV000988419 ; RCV003454441
• dbSNP Id: rs786204929
• gnomAD v4: 10-87933144-G-A
• COSMIC: COSM5092
• MyVariant Identifiers: chr10:g.89692901G>A (hg19) ; chr10:g.87933144G>A (hg38)
• PubMed: PMID:9140396 ; PMID:11238682 ; PMID:12844284 ; PMID:15805158 ; PMID:17286265 ; PMID:17392703 ; PMID:17427195 ; PMID:19265751 ; PMID:19668082 ; PMID:21194675 ; PMID:21659347 ; PMID:22252256 ; PMID:22469695 ; PMID:23695273 ; PMID:24136893 ; PMID:25022750 ; PMID:25132236 ; PMID:25527629

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933144G>A , CM000672.2:g.87933144G>A	GRCh38
NC_000010.10:g.89692901G>A , CM000672.1:g.89692901G>A	GRCh37
NC_000010.9:g.89682881G>A	NCBI36
NG_007466.2:g.74706G>A , LRG_311:g.74706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.385G>A	ENSP00000514759.2:p.Gly129Arg
ENST00000710265.1:c.385G>A	ENSP00000518161.1:p.Gly129Arg
ENST00000472832.3:c.385G>A	ENSP00000483066.2:p.Gly129Arg
ENST00000688158.2:n.1120G>A
ENST00000688922.2:c.*215G>A	ENSP00000508742.2:n.*215G>A
ENST00000700021.1:c.340G>A	ENSP00000514757.1:p.Gly114Arg
ENST00000700022.1:c.385G>A	ENSP00000514758.1:p.Gly129Arg
ENST00000700029.1:c.219G>A
ENST00000706954.1:c.385G>A	ENSP00000516674.1:p.Gly129Arg
ENST00000706955.1:c.*420G>A	ENSP00000516675.1:n.*420G>A
ENST00000686459.1:c.385G>A	ENSP00000508909.1:p.Gly129Arg
ENST00000688158.1:c.*496G>A	ENSP00000509254.1:n.*496G>A
ENST00000688308.1:c.385G>A	ENSP00000508752.1:p.Gly129Arg
ENST00000688922.1:c.306G>A
ENST00000693560.1:c.904G>A	ENSP00000509861.1:p.Gly302Arg
ENST00000371953.8:c.385G>A MANE Select	ENSP00000361021.3:p.Gly129Arg
ENST00000371953.7:c.385G>A	ENSP00000361021.3:p.Gly129Arg
ENST00000498703.1:n.211G>A
ENST00000610634.1:c.283G>A	ENSP00000477517.1:p.Gly95Arg
NM_000314.5:c.385G>A	NP_000305.3:p.Gly129Arg
NM_000314.6:c.385G>A	NP_000305.3:p.Gly129Arg
NM_001304717.2:c.904G>A	NP_001291646.2:p.Gly302Arg
NM_001304718.1:c.-366G>A	NP_001291647.1:n.-366G>A
XM_006717926.2:c.340G>A	XP_006717989.1:p.Gly114Arg
XM_011539981.1:c.385G>A	XP_011538283.1:p.Gly129Arg
XM_011539982.1:c.289G>A	XP_011538284.1:p.Gly97Arg
XR_945789.1:n.1097G>A
XR_945790.1:n.1097G>A
XR_945791.1:n.1097G>A
NM_000314.7:c.385G>A	NP_000305.3:p.Gly129Arg
NM_001304717.5:c.904G>A	NP_001291646.4:p.Gly302Arg
NM_001304718.2:c.-366G>A	NP_001291647.1:n.-366G>A
NM_000314.8:c.385G>A MANE Select	NP_000305.3:p.Gly129Arg