Canonical Allele Identifier: CA377784464

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428244
• ClinVar RCV Id: RCV000491217 ; RCV003449274
• dbSNP Id: rs121909225
• MyVariant Identifiers: chr10:g.89653806T>C (hg19) ; chr10:g.87894049T>C (hg38)
• PubMed: PMID:11476841 ; PMID:21194675 ; PMID:21828076

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894049T>C , CM000672.2:g.87894049T>C	GRCh38
NC_000010.10:g.89653806T>C , CM000672.1:g.89653806T>C	GRCh37
NC_000010.9:g.89643786T>C	NCBI36
NG_007466.2:g.35611T>C , LRG_311:g.35611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.104T>C	ENSP00000514759.2:p.Met35Thr
ENST00000710265.1:c.104T>C	ENSP00000518161.1:p.Met35Thr
ENST00000472832.3:c.104T>C	ENSP00000483066.2:p.Met35Thr
ENST00000688158.2:n.899+13611T>C
ENST00000688922.2:c.104T>C	ENSP00000508742.2:p.Met35Thr
ENST00000700021.1:c.104T>C	ENSP00000514757.1:p.Met35Thr
ENST00000700022.1:c.104T>C	ENSP00000514758.1:p.Met35Thr
ENST00000706954.1:c.104T>C	ENSP00000516674.1:p.Met35Thr
ENST00000706955.1:c.*139T>C	ENSP00000516675.1:n.*139T>C
ENST00000686459.1:c.104T>C	ENSP00000508909.1:p.Met35Thr
ENST00000688158.1:c.*275+13611T>C	ENSP00000509254.1:n.*275+13611T>C
ENST00000688308.1:c.104T>C	ENSP00000508752.1:p.Met35Thr
ENST00000693560.1:c.623T>C	ENSP00000509861.1:p.Met208Thr
ENST00000371953.8:c.104T>C MANE Select	ENSP00000361021.3:p.Met35Thr
ENST00000371953.7:c.104T>C	ENSP00000361021.3:p.Met35Thr
ENST00000462694.1:n.106T>C
ENST00000610634.1:c.2T>C	ENSP00000477517.1:p.Met1Thr
NM_000314.5:c.104T>C	NP_000305.3:p.Met35Thr
NM_000314.6:c.104T>C	NP_000305.3:p.Met35Thr
NM_001304717.2:c.623T>C	NP_001291646.2:p.Met208Thr
NM_001304718.1:c.-602T>C	NP_001291647.1:n.-602T>C
XM_006717926.2:c.104T>C	XP_006717989.1:p.Met35Thr
XM_011539981.1:c.104T>C	XP_011538283.1:p.Met35Thr
XM_011539982.1:c.68+13611T>C	XP_011538284.1:n.68+13611T>C
XR_945789.1:n.816T>C
XR_945790.1:n.816T>C
XR_945791.1:n.816T>C
NM_000314.7:c.104T>C	NP_000305.3:p.Met35Thr
NM_001304717.5:c.623T>C	NP_001291646.4:p.Met208Thr
NM_001304718.2:c.-602T>C	NP_001291647.1:n.-602T>C
NM_000314.8:c.104T>C MANE Select	NP_000305.3:p.Met35Thr