Canonical Allele Identifier: CA000187

Gene: PTEN

Linked Data

• ClinVar Variation Id: 186005
• ClinVar RCV Id: RCV000165524 ; RCV000678734 ; RCV000785578 ; RCV001315436 ; RCV001523840
• dbSNP Id: rs786201995
• gnomAD v4: 10-87864539-G-C
• COSMIC: COSM1603823
• MyVariant Identifiers: chr10:g.89624296G>C (hg19) ; chr10:g.87864539G>C (hg38)
• PubMed: PMID:21194675 ; PMID:22381246 ; PMID:23764071

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87864539G>C , CM000672.2:g.87864539G>C	GRCh38
NC_000010.10:g.89624296G>C , CM000672.1:g.89624296G>C	GRCh37
NC_000010.9:g.89614276G>C	NCBI36
NG_007466.2:g.6101G>C , LRG_311:g.6101G>C
NG_033079.1:g.3899C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.70G>C	ENSP00000514759.2:p.Asp24His
ENST00000710265.1:c.70G>C	ENSP00000518161.1:p.Asp24His
ENST00000472832.3:c.70G>C	ENSP00000483066.2:p.Asp24His
ENST00000688922.2:c.70G>C	ENSP00000508742.2:p.Asp24His
ENST00000700021.1:c.70G>C	ENSP00000514757.1:p.Asp24His
ENST00000700022.1:c.70G>C	ENSP00000514758.1:p.Asp24His
ENST00000706954.1:c.70G>C	ENSP00000516674.1:p.Asp24His
ENST00000706955.1:c.70G>C	ENSP00000516675.1:p.Asp24His
ENST00000686459.1:c.70G>C	ENSP00000508909.1:p.Asp24His
ENST00000688158.1:c.70G>C	ENSP00000509254.1:p.Asp24His
ENST00000688308.1:c.70G>C	ENSP00000508752.1:p.Asp24His
ENST00000693560.1:c.589G>C	ENSP00000509861.1:p.Asp197His
ENST00000371953.8:c.70G>C MANE Select	ENSP00000361021.3:p.Asp24His
ENST00000371953.7:c.70G>C	ENSP00000361021.3:p.Asp24His
ENST00000462694.1:n.72G>C
ENST00000487939.1:n.91G>C
ENST00000610634.1:c.-33G>C	ENSP00000477517.1:n.-33G>C
ENST00000618586.1:n.39G>C
NM_000314.5:c.70G>C	NP_000305.3:p.Asp24His
NM_000314.6:c.70G>C	NP_000305.3:p.Asp24His
NM_001304717.2:c.589G>C	NP_001291646.2:p.Asp197His
NM_001304718.1:c.-636G>C	NP_001291647.1:n.-636G>C
XM_006717926.2:c.70G>C	XP_006717989.1:p.Asp24His
XM_011539981.1:c.70G>C	XP_011538283.1:p.Asp24His
XR_945789.1:n.782G>C
XR_945790.1:n.782G>C
XR_945791.1:n.782G>C
NM_000314.7:c.70G>C	NP_000305.3:p.Asp24His
NM_001304717.5:c.589G>C	NP_001291646.4:p.Asp197His
NM_001304718.2:c.-636G>C	NP_001291647.1:n.-636G>C
NM_000314.8:c.70G>C MANE Select	NP_000305.3:p.Asp24His