Canonical Allele Identifier: CA060209

Gene: PTEN

Linked Data

• ClinVar Variation Id: 376032
• ClinVar RCV Id: RCV000432256 ; RCV000484180 ; RCV000490595 ; RCV002289517 ; RCV002338980
• dbSNP Id: rs121913294
• ExAC: 10:89711900 G / A
• gnomAD v2: 10-89711900-G-A
• gnomAD v4: 10-87952143-G-A
• COSMIC: COSM5039
• MyVariant Identifiers: chr10:g.89711900G>A (hg19) ; chr10:g.87952143G>A (hg38)
• PubMed: PMID:9619835 ; PMID:10866302 ; PMID:17526800 ; PMID:19265751 ; PMID:20533527 ; PMID:21828076 ; PMID:23335809 ; PMID:23633456 ; PMID:24721394 ; PMID:25157968 ; PMID:28526761

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87952143G>A , CM000672.2:g.87952143G>A	GRCh38
NC_000010.10:g.89711900G>A , CM000672.1:g.89711900G>A	GRCh37
NC_000010.9:g.89701880G>A	NCBI36
NG_007466.2:g.93705G>A , LRG_311:g.93705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.518G>A	ENSP00000514759.2:p.Arg173His
ENST00000710265.1:c.518G>A	ENSP00000518161.1:p.Arg173His
ENST00000472832.3:c.518G>A	ENSP00000483066.2:p.Arg173His
ENST00000688158.2:n.1253G>A
ENST00000688922.2:c.*348G>A	ENSP00000508742.2:n.*348G>A
ENST00000700021.1:c.473G>A	ENSP00000514757.1:p.Arg158His
ENST00000700022.1:c.493-5710G>A	ENSP00000514758.1:n.493-5710G>A
ENST00000700023.1:n.1676G>A
ENST00000700024.1:n.1910G>A
ENST00000700025.1:n.1287G>A
ENST00000700029.1:c.352G>A
ENST00000706954.1:c.518G>A	ENSP00000516674.1:p.Arg173His
ENST00000706955.1:c.*553G>A	ENSP00000516675.1:n.*553G>A
ENST00000686459.1:c.*104G>A	ENSP00000508909.1:n.*104G>A
ENST00000688158.1:c.*629G>A	ENSP00000509254.1:n.*629G>A
ENST00000688308.1:c.518G>A	ENSP00000508752.1:p.Arg173His
ENST00000688922.1:c.439G>A
ENST00000693560.1:c.1037G>A	ENSP00000509861.1:p.Arg346His
ENST00000371953.8:c.518G>A MANE Select	ENSP00000361021.3:p.Arg173His
ENST00000371953.7:c.518G>A	ENSP00000361021.3:p.Arg173His
NM_000314.5:c.518G>A	NP_000305.3:p.Arg173His
NM_000314.6:c.518G>A	NP_000305.3:p.Arg173His
NM_001304717.2:c.1037G>A	NP_001291646.2:p.Arg346His
NM_001304718.1:c.-74G>A	NP_001291647.1:n.-74G>A
XM_006717926.2:c.473G>A	XP_006717989.1:p.Arg158His
XM_011539981.1:c.518G>A	XP_011538283.1:p.Arg173His
XM_011539982.1:c.422G>A	XP_011538284.1:p.Arg141His
XR_945789.1:n.1389G>A
XR_945790.1:n.1506G>A
XR_945791.1:n.1205-5710G>A
NM_000314.7:c.518G>A	NP_000305.3:p.Arg173His
NM_001304717.5:c.1037G>A	NP_001291646.4:p.Arg346His
NM_001304718.2:c.-74G>A	NP_001291647.1:n.-74G>A
NM_000314.8:c.518G>A MANE Select	NP_000305.3:p.Arg173His