Canonical Allele Identifier: CA10578908

Gene: PTEN

Linked Data

• ClinVar Variation Id: 231771
• ClinVar RCV Id: RCV000213950 ; RCV003454636 ; RCV003619663
• dbSNP Id: rs762518389
• MyVariant Identifiers: chr10:g.89653846C>G (hg19) ; chr10:g.87894089C>G (hg38)
• PubMed: PMID:14675182 ; PMID:17942903 ; PMID:21659347 ; PMID:21828076 ; PMID:23934601 ; PMID:24498881 ; PMID:25527629 ; PMID:26076150

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894089C>G , CM000672.2:g.87894089C>G	GRCh38
NC_000010.10:g.89653846C>G , CM000672.1:g.89653846C>G	GRCh37
NC_000010.9:g.89643826C>G	NCBI36
NG_007466.2:g.35651C>G , LRG_311:g.35651C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.144C>G	ENSP00000514759.2:p.Asn48Lys
ENST00000710265.1:c.144C>G	ENSP00000518161.1:p.Asn48Lys
ENST00000472832.3:c.144C>G	ENSP00000483066.2:p.Asn48Lys
ENST00000688158.2:n.899+13651C>G
ENST00000688922.2:c.144C>G	ENSP00000508742.2:p.Asn48Lys
ENST00000700021.1:c.144C>G	ENSP00000514757.1:p.Asn48Lys
ENST00000700022.1:c.144C>G	ENSP00000514758.1:p.Asn48Lys
ENST00000706954.1:c.144C>G	ENSP00000516674.1:p.Asn48Lys
ENST00000706955.1:c.*179C>G	ENSP00000516675.1:n.*179C>G
ENST00000686459.1:c.144C>G	ENSP00000508909.1:p.Asn48Lys
ENST00000688158.1:c.*275+13651C>G	ENSP00000509254.1:n.*275+13651C>G
ENST00000688308.1:c.144C>G	ENSP00000508752.1:p.Asn48Lys
ENST00000688922.1:c.13C>G
ENST00000693560.1:c.663C>G	ENSP00000509861.1:p.Asn221Lys
ENST00000371953.8:c.144C>G MANE Select	ENSP00000361021.3:p.Asn48Lys
ENST00000371953.7:c.144C>G	ENSP00000361021.3:p.Asn48Lys
ENST00000462694.1:n.146C>G
ENST00000610634.1:c.42C>G	ENSP00000477517.1:p.Asn14Lys
NM_000314.5:c.144C>G	NP_000305.3:p.Asn48Lys
NM_000314.6:c.144C>G	NP_000305.3:p.Asn48Lys
NM_001304717.2:c.663C>G	NP_001291646.2:p.Asn221Lys
NM_001304718.1:c.-562C>G	NP_001291647.1:n.-562C>G
XM_006717926.2:c.144C>G	XP_006717989.1:p.Asn48Lys
XM_011539981.1:c.144C>G	XP_011538283.1:p.Asn48Lys
XM_011539982.1:c.68+13651C>G	XP_011538284.1:n.68+13651C>G
XR_945789.1:n.856C>G
XR_945790.1:n.856C>G
XR_945791.1:n.856C>G
NM_000314.7:c.144C>G	NP_000305.3:p.Asn48Lys
NM_001304717.5:c.663C>G	NP_001291646.4:p.Asn221Lys
NM_001304718.2:c.-562C>G	NP_001291647.1:n.-562C>G
NM_000314.8:c.144C>G MANE Select	NP_000305.3:p.Asn48Lys