Canonical Allele Identifier: CA16612898

Gene: PTEN

Linked Data

• ClinVar Variation Id: 404164
• ClinVar RCV Id: RCV000458930 ; RCV000575083 ; RCV001539518 ; RCV003449112
• dbSNP Id: rs1060500122
• COSMIC: COSM5164
• MyVariant Identifiers: chr10:g.89692961C>T (hg19) ; chr10:g.87933204C>T (hg38)
• PubMed: PMID:21194675 ; PMID:22266152

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933204C>T , CM000672.2:g.87933204C>T	GRCh38
NC_000010.10:g.89692961C>T , CM000672.1:g.89692961C>T	GRCh37
NC_000010.9:g.89682941C>T	NCBI36
NG_007466.2:g.74766C>T , LRG_311:g.74766C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.445C>T	ENSP00000514759.2:p.Gln149Ter
ENST00000710265.1:c.445C>T	ENSP00000518161.1:p.Gln149Ter
ENST00000472832.3:c.445C>T	ENSP00000483066.2:p.Gln149Ter
ENST00000688158.2:n.1180C>T
ENST00000688922.2:c.*275C>T	ENSP00000508742.2:n.*275C>T
ENST00000700021.1:c.400C>T	ENSP00000514757.1:p.Gln134Ter
ENST00000700022.1:c.445C>T	ENSP00000514758.1:p.Gln149Ter
ENST00000700029.1:c.279C>T
ENST00000706954.1:c.445C>T	ENSP00000516674.1:p.Gln149Ter
ENST00000706955.1:c.*480C>T	ENSP00000516675.1:n.*480C>T
ENST00000686459.1:c.445C>T	ENSP00000508909.1:p.Gln149Ter
ENST00000688158.1:c.*556C>T	ENSP00000509254.1:n.*556C>T
ENST00000688308.1:c.445C>T	ENSP00000508752.1:p.Gln149Ter
ENST00000688922.1:c.366C>T
ENST00000693560.1:c.964C>T	ENSP00000509861.1:p.Gln322Ter
ENST00000371953.8:c.445C>T MANE Select	ENSP00000361021.3:p.Gln149Ter
ENST00000371953.7:c.445C>T	ENSP00000361021.3:p.Gln149Ter
ENST00000498703.1:n.271C>T
ENST00000610634.1:c.343C>T	ENSP00000477517.1:p.Gln115Ter
NM_000314.5:c.445C>T	NP_000305.3:p.Gln149Ter
NM_000314.6:c.445C>T	NP_000305.3:p.Gln149Ter
NM_001304717.2:c.964C>T	NP_001291646.2:p.Gln322Ter
NM_001304718.1:c.-306C>T	NP_001291647.1:n.-306C>T
XM_006717926.2:c.400C>T	XP_006717989.1:p.Gln134Ter
XM_011539981.1:c.445C>T	XP_011538283.1:p.Gln149Ter
XM_011539982.1:c.349C>T	XP_011538284.1:p.Gln117Ter
XR_945789.1:n.1157C>T
XR_945790.1:n.1157C>T
XR_945791.1:n.1157C>T
NM_000314.7:c.445C>T	NP_000305.3:p.Gln149Ter
NM_001304717.5:c.964C>T	NP_001291646.4:p.Gln322Ter
NM_001304718.2:c.-306C>T	NP_001291647.1:n.-306C>T
NM_000314.8:c.445C>T MANE Select	NP_000305.3:p.Gln149Ter