Canonical Allele Identifier: CA377487088

Gene: PTEN

Linked Data

• ClinVar Variation Id: 427581
• ClinVar RCV Id: RCV000490606 ; RCV000491514 ; RCV000522568
• dbSNP Id: rs1085308041
• COSMIC: COSM5966
• MyVariant Identifiers: chr10:g.89725042A>G (hg19) ; chr10:g.87965285A>G (hg38)
• PubMed: PMID:19265751 ; PMID:19968660 ; PMID:21659347 ; PMID:27477328 ; PMID:28526761

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965285A>G , CM000672.2:g.87965285A>G	GRCh38
NC_000010.10:g.89725042A>G , CM000672.1:g.89725042A>G	GRCh37
NC_000010.9:g.89715022A>G	NCBI36
NG_007466.2:g.106847A>G , LRG_311:g.106847A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.1120-2A>G	ENSP00000514759.2:n.1120-2A>G
ENST00000710265.1:c.*56-2A>G	ENSP00000518161.1:n.*56-2A>G
ENST00000688158.2:n.1762-2A>G
ENST00000688922.2:c.*857-2A>G	ENSP00000508742.2:n.*857-2A>G
ENST00000700021.1:c.982-2A>G	ENSP00000514757.1:n.982-2A>G
ENST00000700022.1:c.*366-2A>G	ENSP00000514758.1:n.*366-2A>G
ENST00000700023.1:n.2185-2A>G
ENST00000700024.1:n.2419-2A>G
ENST00000706954.1:c.1027-2A>G	ENSP00000516674.1:n.1027-2A>G
ENST00000706955.1:c.*1062-2A>G	ENSP00000516675.1:n.*1062-2A>G
ENST00000686459.1:c.*613-2A>G	ENSP00000508909.1:n.*613-2A>G
ENST00000688158.1:c.*1138-2A>G	ENSP00000509254.1:n.*1138-2A>G
ENST00000688308.1:c.1027-2A>G	ENSP00000508752.1:n.1027-2A>G
ENST00000688922.1:c.948-2A>G
ENST00000693560.1:c.1546-2A>G	ENSP00000509861.1:n.1546-2A>G
ENST00000371953.8:c.1027-2A>G MANE Select	ENSP00000361021.3:n.1027-2A>G
ENST00000371953.7:c.1027-2A>G	ENSP00000361021.3:n.1027-2A>G
NM_000314.5:c.1027-2A>G	NP_000305.3:n.1027-2A>G
NM_000314.6:c.1027-2A>G	NP_000305.3:n.1027-2A>G
NM_001304717.2:c.1546-2A>G	NP_001291646.2:n.1546-2A>G
NM_001304718.1:c.436-2A>G	NP_001291647.1:n.436-2A>G
XM_006717926.2:c.982-2A>G	XP_006717989.1:n.982-2A>G
XM_011539982.1:c.931-2A>G	XP_011538284.1:n.931-2A>G
XR_945791.1:n.1597-2A>G
NM_000314.7:c.1027-2A>G	NP_000305.3:n.1027-2A>G
NM_001304717.5:c.1546-2A>G	NP_001291646.4:n.1546-2A>G
NM_001304718.2:c.436-2A>G	NP_001291647.1:n.436-2A>G
NM_000314.8:c.1027-2A>G MANE Select	NP_000305.3:n.1027-2A>G