Canonical Allele Identifier: CA377482302

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428234
• ClinVar RCV Id: RCV000491689 ; RCV001206307 ; RCV003233651
• dbSNP Id: rs1114167656
• COSMIC: COSM5041
• MyVariant Identifiers: chr10:g.89692893C>T (hg19) ; chr10:g.87933136C>T (hg38)
• PubMed: PMID:21828076 ; PMID:26504226

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933136C>T , CM000672.2:g.87933136C>T	GRCh38
NC_000010.10:g.89692893C>T , CM000672.1:g.89692893C>T	GRCh37
NC_000010.9:g.89682873C>T	NCBI36
NG_007466.2:g.74698C>T , LRG_311:g.74698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.377C>T	ENSP00000514759.2:p.Ala126Val
ENST00000710265.1:c.377C>T	ENSP00000518161.1:p.Ala126Val
ENST00000472832.3:c.377C>T	ENSP00000483066.2:p.Ala126Val
ENST00000688158.2:n.1112C>T
ENST00000688922.2:c.*207C>T	ENSP00000508742.2:n.*207C>T
ENST00000700021.1:c.332C>T	ENSP00000514757.1:p.Ala111Val
ENST00000700022.1:c.377C>T	ENSP00000514758.1:p.Ala126Val
ENST00000700029.1:c.211C>T
ENST00000706954.1:c.377C>T	ENSP00000516674.1:p.Ala126Val
ENST00000706955.1:c.*412C>T	ENSP00000516675.1:n.*412C>T
ENST00000686459.1:c.377C>T	ENSP00000508909.1:p.Ala126Val
ENST00000688158.1:c.*488C>T	ENSP00000509254.1:n.*488C>T
ENST00000688308.1:c.377C>T	ENSP00000508752.1:p.Ala126Val
ENST00000688922.1:c.298C>T
ENST00000693560.1:c.896C>T	ENSP00000509861.1:p.Ala299Val
ENST00000371953.8:c.377C>T MANE Select	ENSP00000361021.3:p.Ala126Val
ENST00000371953.7:c.377C>T	ENSP00000361021.3:p.Ala126Val
ENST00000498703.1:n.203C>T
ENST00000610634.1:c.275C>T	ENSP00000477517.1:p.Ala92Val
NM_000314.5:c.377C>T	NP_000305.3:p.Ala126Val
NM_000314.6:c.377C>T	NP_000305.3:p.Ala126Val
NM_001304717.2:c.896C>T	NP_001291646.2:p.Ala299Val
NM_001304718.1:c.-374C>T	NP_001291647.1:n.-374C>T
XM_006717926.2:c.332C>T	XP_006717989.1:p.Ala111Val
XM_011539981.1:c.377C>T	XP_011538283.1:p.Ala126Val
XM_011539982.1:c.281C>T	XP_011538284.1:p.Ala94Val
XR_945789.1:n.1089C>T
XR_945790.1:n.1089C>T
XR_945791.1:n.1089C>T
NM_000314.7:c.377C>T	NP_000305.3:p.Ala126Val
NM_001304717.5:c.896C>T	NP_001291646.4:p.Ala299Val
NM_001304718.2:c.-374C>T	NP_001291647.1:n.-374C>T
NM_000314.8:c.377C>T MANE Select	NP_000305.3:p.Ala126Val