Canonical Allele Identifier: CA000245

Gene: PTEN

Linked Data

• ClinVar Variation Id: 7833
• ClinVar RCV Id: RCV000008281 ; RCV000033179 ; RCV000078601 ; RCV000162409 ; RCV000197423 ; RCV000414819 ; RCV000437329 ; RCV000679881 ; RCV000677405 ; RCV000785564 ; RCV001174674 ; RCV001813965 ; RCV001824562 ; RCV002272011 ; RCV002476945
• dbSNP Id: rs121909231
• gnomAD v4: 10-87961095-C-T
• COSMIC: COSM5151
• MyVariant Identifiers: chr10:g.89720852C>T (hg19) ; chr10:g.87961095C>T (hg38)
• PubMed: PMID:9399897 ; PMID:10353779 ; PMID:10468583 ; PMID:10749983 ; PMID:11238682 ; PMID:12844284 ; PMID:14518070 ; PMID:15805158 ; PMID:17286265 ; PMID:17392703 ; PMID:17427195 ; PMID:19265751 ; PMID:19668082 ; PMID:21194675 ; PMID:21956414 ; PMID:22252256 ; PMID:23442912 ; PMID:23470840 ; PMID:23475934 ; PMID:23695273 ; PMID:24136893 ; PMID:24778394 ; PMID:25022750 ; PMID:25132236 ; PMID:25157968 ; PMID:25756585 ; PMID:28526761

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961095C>T , CM000672.2:g.87961095C>T	GRCh38
NC_000010.10:g.89720852C>T , CM000672.1:g.89720852C>T	GRCh37
NC_000010.9:g.89710832C>T	NCBI36
NG_007466.2:g.102657C>T , LRG_311:g.102657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1096C>T	ENSP00000514759.2:p.Arg366Ter
ENST00000710265.1:c.1003C>T	ENSP00000518161.1:p.Arg335Ter
ENST00000472832.3:c.1003C>T	ENSP00000483066.2:p.Arg335Ter
ENST00000688158.2:n.1738C>T
ENST00000688922.2:c.*833C>T	ENSP00000508742.2:n.*833C>T
ENST00000700021.1:c.958C>T	ENSP00000514757.1:p.Arg320Ter
ENST00000700022.1:c.*342C>T	ENSP00000514758.1:n.*342C>T
ENST00000700023.1:n.2161C>T
ENST00000700024.1:n.2395C>T
ENST00000700025.1:n.1772C>T
ENST00000700026.1:n.640C>T
ENST00000706954.1:c.1003C>T	ENSP00000516674.1:p.Arg335Ter
ENST00000706955.1:c.*1038C>T	ENSP00000516675.1:n.*1038C>T
ENST00000686459.1:c.*589C>T	ENSP00000508909.1:n.*589C>T
ENST00000688158.1:c.*1114C>T	ENSP00000509254.1:n.*1114C>T
ENST00000688308.1:c.1003C>T	ENSP00000508752.1:p.Arg335Ter
ENST00000688922.1:c.924C>T
ENST00000693560.1:c.1522C>T	ENSP00000509861.1:p.Arg508Ter
ENST00000371953.8:c.1003C>T MANE Select	ENSP00000361021.3:p.Arg335Ter
ENST00000371953.7:c.1003C>T	ENSP00000361021.3:p.Arg335Ter
ENST00000472832.2:c.430C>T	ENSP00000483066.1:p.Arg144Ter
NM_000314.5:c.1003C>T	NP_000305.3:p.Arg335Ter
NM_000314.6:c.1003C>T	NP_000305.3:p.Arg335Ter
NM_001304717.2:c.1522C>T	NP_001291646.2:p.Arg508Ter
NM_001304718.1:c.412C>T	NP_001291647.1:p.Arg138Ter
XM_006717926.2:c.958C>T	XP_006717989.1:p.Arg320Ter
XM_011539981.1:c.1003C>T	XP_011538283.1:p.Arg335Ter
XM_011539982.1:c.907C>T	XP_011538284.1:p.Arg303Ter
XR_945791.1:n.1573C>T
NM_000314.7:c.1003C>T	NP_000305.3:p.Arg335Ter
NM_001304717.5:c.1522C>T	NP_001291646.4:p.Arg508Ter
NM_001304718.2:c.412C>T	NP_001291647.1:p.Arg138Ter
NM_000314.8:c.1003C>T MANE Select	NP_000305.3:p.Arg335Ter