Canonical Allele Identifier: CA377482178

Gene: PTEN

Linked Data

• ClinVar Variation Id: 484614
• ClinVar RCV Id: RCV000570318 ; RCV000690305 ; RCV003451267
• dbSNP Id: rs57374291
• COSMIC: COSM5212
• MyVariant Identifiers: chr10:g.89692835G>T (hg19) ; chr10:g.87933078G>T (hg38)
• PubMed: PMID:10866302 ; PMID:22320991 ; PMID:23161105 ; PMID:23382303 ; PMID:24375884
• ERepo: CA377482178/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933078G>T , CM000672.2:g.87933078G>T	GRCh38
NC_000010.10:g.89692835G>T , CM000672.1:g.89692835G>T	GRCh37
NC_000010.9:g.89682815G>T	NCBI36
NG_007466.2:g.74640G>T , LRG_311:g.74640G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.319G>T	ENSP00000514759.2:p.Asp107Tyr
ENST00000710265.1:c.319G>T	ENSP00000518161.1:p.Asp107Tyr
ENST00000472832.3:c.319G>T	ENSP00000483066.2:p.Asp107Tyr
ENST00000688158.2:n.1054G>T
ENST00000688922.2:c.*149G>T	ENSP00000508742.2:n.*149G>T
ENST00000700021.1:c.274G>T	ENSP00000514757.1:p.Asp92Tyr
ENST00000700022.1:c.319G>T	ENSP00000514758.1:p.Asp107Tyr
ENST00000700029.1:c.153G>T
ENST00000706954.1:c.319G>T	ENSP00000516674.1:p.Asp107Tyr
ENST00000706955.1:c.*354G>T	ENSP00000516675.1:n.*354G>T
ENST00000686459.1:c.319G>T	ENSP00000508909.1:p.Asp107Tyr
ENST00000688158.1:c.*430G>T	ENSP00000509254.1:n.*430G>T
ENST00000688308.1:c.319G>T	ENSP00000508752.1:p.Asp107Tyr
ENST00000688922.1:c.240G>T
ENST00000693560.1:c.838G>T	ENSP00000509861.1:p.Asp280Tyr
ENST00000371953.8:c.319G>T MANE Select	ENSP00000361021.3:p.Asp107Tyr
ENST00000371953.7:c.319G>T	ENSP00000361021.3:p.Asp107Tyr
ENST00000498703.1:n.145G>T
ENST00000610634.1:c.217G>T	ENSP00000477517.1:p.Asp73Tyr
NM_000314.5:c.319G>T	NP_000305.3:p.Asp107Tyr
NM_000314.6:c.319G>T	NP_000305.3:p.Asp107Tyr
NM_001304717.2:c.838G>T	NP_001291646.2:p.Asp280Tyr
NM_001304718.1:c.-432G>T	NP_001291647.1:n.-432G>T
XM_006717926.2:c.274G>T	XP_006717989.1:p.Asp92Tyr
XM_011539981.1:c.319G>T	XP_011538283.1:p.Asp107Tyr
XM_011539982.1:c.223G>T	XP_011538284.1:p.Asp75Tyr
XR_945789.1:n.1031G>T
XR_945790.1:n.1031G>T
XR_945791.1:n.1031G>T
NM_000314.7:c.319G>T	NP_000305.3:p.Asp107Tyr
NM_001304717.5:c.838G>T	NP_001291646.4:p.Asp280Tyr
NM_001304718.2:c.-432G>T	NP_001291647.1:n.-432G>T
NM_000314.8:c.319G>T MANE Select	NP_000305.3:p.Asp107Tyr