Canonical Allele Identifier: CA000549

Gene: PTEN

Linked Data

• ClinVar Variation Id: 7813
• ClinVar RCV Id: RCV000008256 ; RCV000128455 ; RCV000162649 ; RCV000212882 ; RCV000427583 ; RCV000434092 ; RCV000436969 ; RCV000477737 ; RCV000444248 ; RCV000678740 ; RCV000785383 ; RCV001327980 ; RCV003162216 ; RCV004532309 ; RCV003466836
• dbSNP Id: rs121909219
• gnomAD v4: 10-87957915-C-T
• COSMIC: COSM5154
• MyVariant Identifiers: chr10:g.89717672C>T (hg19) ; chr10:g.87957915C>T (hg38)
• CIViC: CA000549
• PubMed: PMID:9140396 ; PMID:9241266 ; PMID:9259288 ; PMID:9598803 ; PMID:10400993 ; PMID:10555148 ; PMID:10920277 ; PMID:10923032 ; PMID:11504908 ; PMID:15016963 ; PMID:15211648 ; PMID:15254419 ; PMID:15647370 ; PMID:16952599 ; PMID:17526800 ; PMID:18725974 ; PMID:19351834 ; PMID:19366826 ; PMID:19903786 ; PMID:20018398 ; PMID:20085938 ; PMID:20453058 ; PMID:20619739 ; PMID:20881644 ; PMID:21194675 ; PMID:22162582 ; PMID:22162589 ; PMID:22479427 ; PMID:23335809 ; PMID:25288137 ; PMID:27426521 ; PMID:28286253 ; PMID:28526761

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957915C>T , CM000672.2:g.87957915C>T	GRCh38
NC_000010.10:g.89717672C>T , CM000672.1:g.89717672C>T	GRCh37
NC_000010.9:g.89707652C>T	NCBI36
NG_007466.2:g.99477C>T , LRG_311:g.99477C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.697C>T	ENSP00000514759.2:p.Arg233Ter
ENST00000710265.1:c.697C>T	ENSP00000518161.1:p.Arg233Ter
ENST00000472832.3:c.697C>T	ENSP00000483066.2:p.Arg233Ter
ENST00000688158.2:n.1432C>T
ENST00000688922.2:c.*527C>T	ENSP00000508742.2:n.*527C>T
ENST00000700021.1:c.652C>T	ENSP00000514757.1:p.Arg218Ter
ENST00000700022.1:c.*36C>T	ENSP00000514758.1:n.*36C>T
ENST00000700023.1:n.1855C>T
ENST00000700024.1:n.2089C>T
ENST00000700025.1:n.1466C>T
ENST00000700026.1:n.334C>T
ENST00000700029.1:c.531C>T
ENST00000706954.1:c.697C>T	ENSP00000516674.1:p.Arg233Ter
ENST00000706955.1:c.*732C>T	ENSP00000516675.1:n.*732C>T
ENST00000686459.1:c.*283C>T	ENSP00000508909.1:n.*283C>T
ENST00000688158.1:c.*808C>T	ENSP00000509254.1:n.*808C>T
ENST00000688308.1:c.697C>T	ENSP00000508752.1:p.Arg233Ter
ENST00000688922.1:c.618C>T
ENST00000693560.1:c.1216C>T	ENSP00000509861.1:p.Arg406Ter
ENST00000371953.8:c.697C>T MANE Select	ENSP00000361021.3:p.Arg233Ter
ENST00000371953.7:c.697C>T	ENSP00000361021.3:p.Arg233Ter
ENST00000472832.2:c.124C>T	ENSP00000483066.1:p.Arg42Ter
NM_000314.5:c.697C>T	NP_000305.3:p.Arg233Ter
NM_000314.6:c.697C>T	NP_000305.3:p.Arg233Ter
NM_001304717.2:c.1216C>T	NP_001291646.2:p.Arg406Ter
NM_001304718.1:c.106C>T	NP_001291647.1:p.Arg36Ter
XM_006717926.2:c.652C>T	XP_006717989.1:p.Arg218Ter
XM_011539981.1:c.697C>T	XP_011538283.1:p.Arg233Ter
XM_011539982.1:c.601C>T	XP_011538284.1:p.Arg201Ter
XR_945791.1:n.1267C>T
NM_000314.7:c.697C>T	NP_000305.3:p.Arg233Ter
NM_001304717.5:c.1216C>T	NP_001291646.4:p.Arg406Ter
NM_001304718.2:c.106C>T	NP_001291647.1:p.Arg36Ter
NM_000314.8:c.697C>T MANE Select	NP_000305.3:p.Arg233Ter