Canonical Allele Identifier: CA377485523

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428268
• ClinVar RCV Id: RCV000491643 ; RCV000536465 ; RCV003449278
• dbSNP Id: rs398123329
• COSMIC: COSM5347081
• MyVariant Identifiers: chr10:g.89720679C>G (hg19) ; chr10:g.87960922C>G (hg38)
• ERepo: CA377485523/MONDO:0017623/003
• PubMed: PMID:15659546 ; PMID:20712882 ; PMID:25549896

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960922C>G , CM000672.2:g.87960922C>G	GRCh38
NC_000010.10:g.89720679C>G , CM000672.1:g.89720679C>G	GRCh37
NC_000010.9:g.89710659C>G	NCBI36
NG_007466.2:g.102484C>G , LRG_311:g.102484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.923C>G	ENSP00000514759.2:p.Thr308Arg
ENST00000710265.1:c.830C>G	ENSP00000518161.1:p.Thr277Arg
ENST00000472832.3:c.830C>G	ENSP00000483066.2:p.Thr277Arg
ENST00000688158.2:n.1565C>G
ENST00000688922.2:c.*660C>G	ENSP00000508742.2:n.*660C>G
ENST00000700021.1:c.785C>G	ENSP00000514757.1:p.Thr262Arg
ENST00000700022.1:c.*169C>G	ENSP00000514758.1:n.*169C>G
ENST00000700023.1:n.1988C>G
ENST00000700024.1:n.2222C>G
ENST00000700025.1:n.1599C>G
ENST00000700026.1:n.467C>G
ENST00000700029.1:c.757C>G
ENST00000706954.1:c.830C>G	ENSP00000516674.1:p.Thr277Arg
ENST00000706955.1:c.*865C>G	ENSP00000516675.1:n.*865C>G
ENST00000686459.1:c.*416C>G	ENSP00000508909.1:n.*416C>G
ENST00000688158.1:c.*941C>G	ENSP00000509254.1:n.*941C>G
ENST00000688308.1:c.830C>G	ENSP00000508752.1:p.Thr277Arg
ENST00000688922.1:c.751C>G
ENST00000693560.1:c.1349C>G	ENSP00000509861.1:p.Thr450Arg
ENST00000371953.8:c.830C>G MANE Select	ENSP00000361021.3:p.Thr277Arg
ENST00000371953.7:c.830C>G	ENSP00000361021.3:p.Thr277Arg
ENST00000472832.2:c.257C>G	ENSP00000483066.1:p.Thr86Arg
NM_000314.5:c.830C>G	NP_000305.3:p.Thr277Arg
NM_000314.6:c.830C>G	NP_000305.3:p.Thr277Arg
NM_001304717.2:c.1349C>G	NP_001291646.2:p.Thr450Arg
NM_001304718.1:c.239C>G	NP_001291647.1:p.Thr80Arg
XM_006717926.2:c.785C>G	XP_006717989.1:p.Thr262Arg
XM_011539981.1:c.830C>G	XP_011538283.1:p.Thr277Arg
XM_011539982.1:c.734C>G	XP_011538284.1:p.Thr245Arg
XR_945791.1:n.1400C>G
NM_000314.7:c.830C>G	NP_000305.3:p.Thr277Arg
NM_001304717.5:c.1349C>G	NP_001291646.4:p.Thr450Arg
NM_001304718.2:c.239C>G	NP_001291647.1:p.Thr80Arg
NM_000314.8:c.830C>G MANE Select	NP_000305.3:p.Thr277Arg