Canonical Allele Identifier: CA645369431

Gene: PTEN

Linked Data

• ClinVar Variation Id: 427614
• ClinVar RCV Id: RCV000491938 ; RCV001358192 ; RCV001050316 ; RCV000516142
• dbSNP Id: rs1114167650
• gnomAD v4: 10-87925562-G-A
• COSMIC: COSM5916
• MyVariant Identifiers: chr10:g.89685319G>A (hg19) ; chr10:g.87925562G>A (hg38)
• PubMed: PMID:9467011 ; PMID:10232405 ; PMID:16014636 ; PMID:20712882 ; PMID:28677221

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925562G>A , CM000672.2:g.87925562G>A	GRCh38
NC_000010.10:g.89685319G>A , CM000672.1:g.89685319G>A	GRCh37
NC_000010.9:g.89675299G>A	NCBI36
NG_007466.2:g.67124G>A , LRG_311:g.67124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.209+5G>A	ENSP00000514759.2:n.209+5G>A
ENST00000710265.1:c.209+5G>A	ENSP00000518161.1:n.209+5G>A
ENST00000472832.3:c.209+5G>A	ENSP00000483066.2:n.209+5G>A
ENST00000688158.2:n.944+5G>A
ENST00000688922.2:c.209+5G>A	ENSP00000508742.2:n.209+5G>A
ENST00000700021.1:c.165-5484G>A	ENSP00000514757.1:n.165-5484G>A
ENST00000700022.1:c.209+5G>A	ENSP00000514758.1:n.209+5G>A
ENST00000700029.1:c.43+5G>A
ENST00000706954.1:c.209+5G>A	ENSP00000516674.1:n.209+5G>A
ENST00000706955.1:c.*244+5G>A	ENSP00000516675.1:n.*244+5G>A
ENST00000686459.1:c.209+5G>A	ENSP00000508909.1:n.209+5G>A
ENST00000688158.1:c.*320+5G>A	ENSP00000509254.1:n.*320+5G>A
ENST00000688308.1:c.209+5G>A	ENSP00000508752.1:n.209+5G>A
ENST00000688922.1:c.78+5G>A
ENST00000693560.1:c.728+5G>A	ENSP00000509861.1:n.728+5G>A
ENST00000371953.8:c.209+5G>A MANE Select	ENSP00000361021.3:n.209+5G>A
ENST00000371953.7:c.209+5G>A	ENSP00000361021.3:n.209+5G>A
ENST00000498703.1:n.35+5G>A
ENST00000610634.1:c.107+5G>A	ENSP00000477517.1:n.107+5G>A
NM_000314.5:c.209+5G>A	NP_000305.3:n.209+5G>A
NM_000314.6:c.209+5G>A	NP_000305.3:n.209+5G>A
NM_001304717.2:c.728+5G>A	NP_001291646.2:n.728+5G>A
NM_001304718.1:c.-541-5484G>A	NP_001291647.1:n.-541-5484G>A
XM_006717926.2:c.165-5484G>A	XP_006717989.1:n.165-5484G>A
XM_011539981.1:c.209+5G>A	XP_011538283.1:n.209+5G>A
XM_011539982.1:c.113+5G>A	XP_011538284.1:n.113+5G>A
XR_945789.1:n.921+5G>A
XR_945790.1:n.921+5G>A
XR_945791.1:n.921+5G>A
NM_000314.7:c.209+5G>A	NP_000305.3:n.209+5G>A
NM_001304717.5:c.728+5G>A	NP_001291646.4:n.728+5G>A
NM_001304718.2:c.-541-5484G>A	NP_001291647.1:n.-541-5484G>A
NM_000314.8:c.209+5G>A MANE Select	NP_000305.3:n.209+5G>A