Canonical Allele Identifier: CA16606092

Gene: PTEN

Linked Data

• ClinVar Variation Id: 381529
• ClinVar RCV Id: RCV000433720 ; RCV000491416 ; RCV002521586 ; RCV003449057
• dbSNP Id: rs1554893835
• COSMIC: COSM39297
• MyVariant Identifiers: chr10:g.89653867G>T (hg19) ; chr10:g.87894110G>T (hg38)
• PubMed: PMID:11886535 ; PMID:24778394

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894110G>T , CM000672.2:g.87894110G>T	GRCh38
NC_000010.10:g.89653867G>T , CM000672.1:g.89653867G>T	GRCh37
NC_000010.9:g.89643847G>T	NCBI36
NG_007466.2:g.35672G>T , LRG_311:g.35672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.164+1G>T	ENSP00000514759.2:n.164+1G>T
ENST00000710265.1:c.164+1G>T	ENSP00000518161.1:n.164+1G>T
ENST00000472832.3:c.164+1G>T	ENSP00000483066.2:n.164+1G>T
ENST00000688158.2:n.899+13672G>T
ENST00000688922.2:c.164+1G>T	ENSP00000508742.2:n.164+1G>T
ENST00000700021.1:c.164+1G>T	ENSP00000514757.1:n.164+1G>T
ENST00000700022.1:c.164+1G>T	ENSP00000514758.1:n.164+1G>T
ENST00000706954.1:c.164+1G>T	ENSP00000516674.1:n.164+1G>T
ENST00000706955.1:c.*199+1G>T	ENSP00000516675.1:n.*199+1G>T
ENST00000686459.1:c.164+1G>T	ENSP00000508909.1:n.164+1G>T
ENST00000688158.1:c.*275+13672G>T	ENSP00000509254.1:n.*275+13672G>T
ENST00000688308.1:c.164+1G>T	ENSP00000508752.1:n.164+1G>T
ENST00000688922.1:c.33+1G>T
ENST00000693560.1:c.683+1G>T	ENSP00000509861.1:n.683+1G>T
ENST00000371953.8:c.164+1G>T MANE Select	ENSP00000361021.3:n.164+1G>T
ENST00000371953.7:c.164+1G>T	ENSP00000361021.3:n.164+1G>T
ENST00000462694.1:n.167G>T
ENST00000610634.1:c.62+1G>T	ENSP00000477517.1:n.62+1G>T
NM_000314.5:c.164+1G>T	NP_000305.3:n.164+1G>T
NM_000314.6:c.164+1G>T	NP_000305.3:n.164+1G>T
NM_001304717.2:c.683+1G>T	NP_001291646.2:n.683+1G>T
NM_001304718.1:c.-542+1G>T	NP_001291647.1:n.-542+1G>T
XM_006717926.2:c.164+1G>T	XP_006717989.1:n.164+1G>T
XM_011539981.1:c.164+1G>T	XP_011538283.1:n.164+1G>T
XM_011539982.1:c.68+13672G>T	XP_011538284.1:n.68+13672G>T
XR_945789.1:n.876+1G>T
XR_945790.1:n.876+1G>T
XR_945791.1:n.876+1G>T
NM_000314.7:c.164+1G>T	NP_000305.3:n.164+1G>T
NM_001304717.5:c.683+1G>T	NP_001291646.4:n.683+1G>T
NM_001304718.2:c.-542+1G>T	NP_001291647.1:n.-542+1G>T
NM_000314.8:c.164+1G>T MANE Select	NP_000305.3:n.164+1G>T