Canonical Allele Identifier: CA16619052

Gene: PTEN

Linked Data

• ClinVar Variation Id: 418436
• ClinVar RCV Id: RCV000479867 ; RCV000490832 ; RCV000688225 ; RCV003449170 ; RCV001357264
• dbSNP Id: rs1064793243
• COSMIC: COSM1349506
• MyVariant Identifiers: chr10:g.89692839T>C (hg19) ; chr10:g.87933082T>C (hg38)
• PubMed: PMID:17526801 ; PMID:20712882 ; PMID:23399955

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933082T>C , CM000672.2:g.87933082T>C	GRCh38
NC_000010.10:g.89692839T>C , CM000672.1:g.89692839T>C	GRCh37
NC_000010.9:g.89682819T>C	NCBI36
NG_007466.2:g.74644T>C , LRG_311:g.74644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.323T>C	ENSP00000514759.2:p.Leu108Pro
ENST00000710265.1:c.323T>C	ENSP00000518161.1:p.Leu108Pro
ENST00000472832.3:c.323T>C	ENSP00000483066.2:p.Leu108Pro
ENST00000688158.2:n.1058T>C
ENST00000688922.2:c.*153T>C	ENSP00000508742.2:n.*153T>C
ENST00000700021.1:c.278T>C	ENSP00000514757.1:p.Leu93Pro
ENST00000700022.1:c.323T>C	ENSP00000514758.1:p.Leu108Pro
ENST00000700029.1:c.157T>C
ENST00000706954.1:c.323T>C	ENSP00000516674.1:p.Leu108Pro
ENST00000706955.1:c.*358T>C	ENSP00000516675.1:n.*358T>C
ENST00000686459.1:c.323T>C	ENSP00000508909.1:p.Leu108Pro
ENST00000688158.1:c.*434T>C	ENSP00000509254.1:n.*434T>C
ENST00000688308.1:c.323T>C	ENSP00000508752.1:p.Leu108Pro
ENST00000688922.1:c.244T>C
ENST00000693560.1:c.842T>C	ENSP00000509861.1:p.Leu281Pro
ENST00000371953.8:c.323T>C MANE Select	ENSP00000361021.3:p.Leu108Pro
ENST00000371953.7:c.323T>C	ENSP00000361021.3:p.Leu108Pro
ENST00000498703.1:n.149T>C
ENST00000610634.1:c.221T>C	ENSP00000477517.1:p.Leu74Pro
NM_000314.5:c.323T>C	NP_000305.3:p.Leu108Pro
NM_000314.6:c.323T>C	NP_000305.3:p.Leu108Pro
NM_001304717.2:c.842T>C	NP_001291646.2:p.Leu281Pro
NM_001304718.1:c.-428T>C	NP_001291647.1:n.-428T>C
XM_006717926.2:c.278T>C	XP_006717989.1:p.Leu93Pro
XM_011539981.1:c.323T>C	XP_011538283.1:p.Leu108Pro
XM_011539982.1:c.227T>C	XP_011538284.1:p.Leu76Pro
XR_945789.1:n.1035T>C
XR_945790.1:n.1035T>C
XR_945791.1:n.1035T>C
NM_000314.7:c.323T>C	NP_000305.3:p.Leu108Pro
NM_001304717.5:c.842T>C	NP_001291646.4:p.Leu281Pro
NM_001304718.2:c.-428T>C	NP_001291647.1:n.-428T>C
NM_000314.8:c.323T>C MANE Select	NP_000305.3:p.Leu108Pro