Canonical Allele Identifier: CA377487506

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428265
• ClinVar RCV Id: RCV000491590 ; RCV002523438
• dbSNP Id: rs876660879
• COSMIC: COSM5334
• MyVariant Identifiers: chr10:g.89725229A>C (hg19) ; chr10:g.87965472A>C (hg38)
• PubMed: PMID:15951562 ; PMID:23085752 ; PMID:24375884

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965472A>C , CM000672.2:g.87965472A>C	GRCh38
NC_000010.10:g.89725229A>C , CM000672.1:g.89725229A>C	GRCh37
NC_000010.9:g.89715209A>C	NCBI36
NG_007466.2:g.107034A>C , LRG_311:g.107034A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1305A>C	ENSP00000514759.2:p.Ter435Cys
ENST00000710265.1:c.*241A>C	ENSP00000518161.1:n.*241A>C
ENST00000688158.2:n.1947A>C
ENST00000688922.2:c.*1042A>C	ENSP00000508742.2:n.*1042A>C
ENST00000700021.1:c.1167A>C	ENSP00000514757.1:p.Ter389Cys
ENST00000700022.1:c.*551A>C	ENSP00000514758.1:n.*551A>C
ENST00000700023.1:n.2370A>C
ENST00000700024.1:n.2604A>C
ENST00000706954.1:c.1212A>C	ENSP00000516674.1:p.Ter404Cys
ENST00000706955.1:c.*1247A>C	ENSP00000516675.1:n.*1247A>C
ENST00000686459.1:c.*798A>C	ENSP00000508909.1:n.*798A>C
ENST00000688158.1:c.*1323A>C	ENSP00000509254.1:n.*1323A>C
ENST00000688308.1:c.1212A>C	ENSP00000508752.1:p.Ter404Cys
ENST00000688922.1:c.1133A>C
ENST00000693560.1:c.1731A>C	ENSP00000509861.1:p.Ter577Cys
ENST00000371953.8:c.1212A>C MANE Select	ENSP00000361021.3:p.Ter404Cys
ENST00000371953.7:c.1212A>C	ENSP00000361021.3:p.Ter404Cys
NM_000314.5:c.1212A>C	NP_000305.3:p.Ter404Cys
NM_000314.6:c.1212A>C	NP_000305.3:p.Ter404Cys
NM_001304717.2:c.1731A>C	NP_001291646.2:p.Ter577Cys
NM_001304718.1:c.621A>C	NP_001291647.1:p.Ter207Cys
XM_006717926.2:c.1167A>C	XP_006717989.1:p.Ter389Cys
XM_011539982.1:c.1116A>C	XP_011538284.1:p.Ter372Cys
XR_945791.1:n.1782A>C
NM_000314.7:c.1212A>C	NP_000305.3:p.Ter404Cys
NM_001304717.5:c.1731A>C	NP_001291646.4:p.Ter577Cys
NM_001304718.2:c.621A>C	NP_001291647.1:p.Ter207Cys
NM_000314.8:c.1212A>C MANE Select	NP_000305.3:p.Ter404Cys