Canonical Allele Identifier: CA377784477

Gene: PTEN

Linked Data

• ClinVar Variation Id: 486972
• ClinVar RCV Id: RCV001251390 ; RCV000565926 ; RCV003451291 ; RCV003451292 ; RCV001559024
• dbSNP Id: rs1554893792
• COSMIC: COSM5137
• MyVariant Identifiers: chr10:g.89653809G>A (hg19) ; chr10:g.87894052G>A (hg38)
• ERepo: CA377784477/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894052G>A , CM000672.2:g.87894052G>A	GRCh38
NC_000010.10:g.89653809G>A , CM000672.1:g.89653809G>A	GRCh37
NC_000010.9:g.89643789G>A	NCBI36
NG_007466.2:g.35614G>A , LRG_311:g.35614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.107G>A	ENSP00000514759.2:p.Gly36Glu
ENST00000710265.1:c.107G>A	ENSP00000518161.1:p.Gly36Glu
ENST00000472832.3:c.107G>A	ENSP00000483066.2:p.Gly36Glu
ENST00000688158.2:n.899+13614G>A
ENST00000688922.2:c.107G>A	ENSP00000508742.2:p.Gly36Glu
ENST00000700021.1:c.107G>A	ENSP00000514757.1:p.Gly36Glu
ENST00000700022.1:c.107G>A	ENSP00000514758.1:p.Gly36Glu
ENST00000706954.1:c.107G>A	ENSP00000516674.1:p.Gly36Glu
ENST00000706955.1:c.*142G>A	ENSP00000516675.1:n.*142G>A
ENST00000686459.1:c.107G>A	ENSP00000508909.1:p.Gly36Glu
ENST00000688158.1:c.*275+13614G>A	ENSP00000509254.1:n.*275+13614G>A
ENST00000688308.1:c.107G>A	ENSP00000508752.1:p.Gly36Glu
ENST00000693560.1:c.626G>A	ENSP00000509861.1:p.Gly209Glu
ENST00000371953.8:c.107G>A MANE Select	ENSP00000361021.3:p.Gly36Glu
ENST00000371953.7:c.107G>A	ENSP00000361021.3:p.Gly36Glu
ENST00000462694.1:n.109G>A
ENST00000610634.1:c.5G>A	ENSP00000477517.1:p.Gly2Glu
NM_000314.5:c.107G>A	NP_000305.3:p.Gly36Glu
NM_000314.6:c.107G>A	NP_000305.3:p.Gly36Glu
NM_001304717.2:c.626G>A	NP_001291646.2:p.Gly209Glu
NM_001304718.1:c.-599G>A	NP_001291647.1:n.-599G>A
XM_006717926.2:c.107G>A	XP_006717989.1:p.Gly36Glu
XM_011539981.1:c.107G>A	XP_011538283.1:p.Gly36Glu
XM_011539982.1:c.68+13614G>A	XP_011538284.1:n.68+13614G>A
XR_945789.1:n.819G>A
XR_945790.1:n.819G>A
XR_945791.1:n.819G>A
NM_000314.7:c.107G>A	NP_000305.3:p.Gly36Glu
NM_001304717.5:c.626G>A	NP_001291646.4:p.Gly209Glu
NM_001304718.2:c.-599G>A	NP_001291647.1:n.-599G>A
NM_000314.8:c.107G>A MANE Select	NP_000305.3:p.Gly36Glu