Canonical Allele Identifier: CA377481417

Gene: PTEN

Linked Data

• ClinVar Variation Id: 427585
• ClinVar RCV Id: RCV000490594 ; RCV000491885 ; RCV003316641
• dbSNP Id: rs587776667
• COSMIC: COSM12719
• MyVariant Identifiers: chr10:g.89690847G>C (hg19) ; chr10:g.87931090G>C (hg38)
• PubMed: PMID:9259288 ; PMID:21194675 ; PMID:23470840 ; PMID:25669429 ; PMID:28526761

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87931090G>C , CM000672.2:g.87931090G>C	GRCh38
NC_000010.10:g.89690847G>C , CM000672.1:g.89690847G>C	GRCh37
NC_000010.9:g.89680827G>C	NCBI36
NG_007466.2:g.72652G>C , LRG_311:g.72652G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.253+1G>C	ENSP00000514759.2:n.253+1G>C
ENST00000710265.1:c.253+1G>C	ENSP00000518161.1:n.253+1G>C
ENST00000472832.3:c.253+1G>C	ENSP00000483066.2:n.253+1G>C
ENST00000688158.2:n.988+1G>C
ENST00000688922.2:c.*83+1G>C	ENSP00000508742.2:n.*83+1G>C
ENST00000700021.1:c.208+1G>C	ENSP00000514757.1:n.208+1G>C
ENST00000700022.1:c.253+1G>C	ENSP00000514758.1:n.253+1G>C
ENST00000700029.1:c.87+1G>C
ENST00000706954.1:c.253+1G>C	ENSP00000516674.1:n.253+1G>C
ENST00000706955.1:c.*288+1G>C	ENSP00000516675.1:n.*288+1G>C
ENST00000686459.1:c.253+1G>C	ENSP00000508909.1:n.253+1G>C
ENST00000688158.1:c.*364+1G>C	ENSP00000509254.1:n.*364+1G>C
ENST00000688308.1:c.253+1G>C	ENSP00000508752.1:n.253+1G>C
ENST00000688922.1:c.174+1G>C
ENST00000693560.1:c.772+1G>C	ENSP00000509861.1:n.772+1G>C
ENST00000371953.8:c.253+1G>C MANE Select	ENSP00000361021.3:n.253+1G>C
ENST00000371953.7:c.253+1G>C	ENSP00000361021.3:n.253+1G>C
ENST00000498703.1:n.79+1G>C
ENST00000610634.1:c.151+1G>C	ENSP00000477517.1:n.151+1G>C
NM_000314.5:c.253+1G>C	NP_000305.3:n.253+1G>C
NM_000314.6:c.253+1G>C	NP_000305.3:n.253+1G>C
NM_001304717.2:c.772+1G>C	NP_001291646.2:n.772+1G>C
NM_001304718.1:c.-498+1G>C	NP_001291647.1:n.-498+1G>C
XM_006717926.2:c.208+1G>C	XP_006717989.1:n.208+1G>C
XM_011539981.1:c.253+1G>C	XP_011538283.1:n.253+1G>C
XM_011539982.1:c.157+1G>C	XP_011538284.1:n.157+1G>C
XR_945789.1:n.965+1G>C
XR_945790.1:n.965+1G>C
XR_945791.1:n.965+1G>C
NM_000314.7:c.253+1G>C	NP_000305.3:n.253+1G>C
NM_001304717.5:c.772+1G>C	NP_001291646.4:n.772+1G>C
NM_001304718.2:c.-498+1G>C	NP_001291647.1:n.-498+1G>C
NM_000314.8:c.253+1G>C MANE Select	NP_000305.3:n.253+1G>C