Canonical Allele Identifier: CA377482775

Gene: PTEN

Linked Data

• ClinVar Variation Id: 428237
• ClinVar RCV Id: RCV000490957 ; RCV003449273 ; RCV003447532
• dbSNP Id: rs398123325
• COSMIC: COSM5038
• MyVariant Identifiers: chr10:g.89692979T>C (hg19) ; chr10:g.87933222T>C (hg38)
• PubMed: PMID:21194675 ; PMID:21659347

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933222T>C , CM000672.2:g.87933222T>C	GRCh38
NC_000010.10:g.89692979T>C , CM000672.1:g.89692979T>C	GRCh37
NC_000010.9:g.89682959T>C	NCBI36
NG_007466.2:g.74784T>C , LRG_311:g.74784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.463T>C	ENSP00000514759.2:p.Tyr155His
ENST00000710265.1:c.463T>C	ENSP00000518161.1:p.Tyr155His
ENST00000472832.3:c.463T>C	ENSP00000483066.2:p.Tyr155His
ENST00000688158.2:n.1198T>C
ENST00000688922.2:c.*293T>C	ENSP00000508742.2:n.*293T>C
ENST00000700021.1:c.418T>C	ENSP00000514757.1:p.Tyr140His
ENST00000700022.1:c.463T>C	ENSP00000514758.1:p.Tyr155His
ENST00000700029.1:c.297T>C
ENST00000706954.1:c.463T>C	ENSP00000516674.1:p.Tyr155His
ENST00000706955.1:c.*498T>C	ENSP00000516675.1:n.*498T>C
ENST00000686459.1:c.463T>C	ENSP00000508909.1:p.Tyr155His
ENST00000688158.1:c.*574T>C	ENSP00000509254.1:n.*574T>C
ENST00000688308.1:c.463T>C	ENSP00000508752.1:p.Tyr155His
ENST00000688922.1:c.384T>C
ENST00000693560.1:c.982T>C	ENSP00000509861.1:p.Tyr328His
ENST00000371953.8:c.463T>C MANE Select	ENSP00000361021.3:p.Tyr155His
ENST00000371953.7:c.463T>C	ENSP00000361021.3:p.Tyr155His
ENST00000498703.1:n.289T>C
ENST00000610634.1:c.361T>C	ENSP00000477517.1:p.Tyr121His
NM_000314.5:c.463T>C	NP_000305.3:p.Tyr155His
NM_000314.6:c.463T>C	NP_000305.3:p.Tyr155His
NM_001304717.2:c.982T>C	NP_001291646.2:p.Tyr328His
NM_001304718.1:c.-288T>C	NP_001291647.1:n.-288T>C
XM_006717926.2:c.418T>C	XP_006717989.1:p.Tyr140His
XM_011539981.1:c.463T>C	XP_011538283.1:p.Tyr155His
XM_011539982.1:c.367T>C	XP_011538284.1:p.Tyr123His
XR_945789.1:n.1175T>C
XR_945790.1:n.1175T>C
XR_945791.1:n.1175T>C
NM_000314.7:c.463T>C	NP_000305.3:p.Tyr155His
NM_001304717.5:c.982T>C	NP_001291646.4:p.Tyr328His
NM_001304718.2:c.-288T>C	NP_001291647.1:n.-288T>C
NM_000314.8:c.463T>C MANE Select	NP_000305.3:p.Tyr155His