Canonical Allele Identifier: CA377784548

Gene: PTEN

Linked Data

• ClinVar Variation Id: 1701143
• ClinVar RCV Id: RCV002275955
• dbSNP Id: rs1064793325
• COSMIC: COSM3397282
• MyVariant Identifiers: chr10:g.89653838T>C (hg19) ; chr10:g.87894081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87894081T>C , CM000672.2:g.87894081T>C	GRCh38
NC_000010.10:g.89653838T>C , CM000672.1:g.89653838T>C	GRCh37
NC_000010.9:g.89643818T>C	NCBI36
NG_007466.2:g.35643T>C , LRG_311:g.35643T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.136T>C	ENSP00000514759.2:p.Tyr46His
ENST00000710265.1:c.136T>C	ENSP00000518161.1:p.Tyr46His
ENST00000472832.3:c.136T>C	ENSP00000483066.2:p.Tyr46His
ENST00000688158.2:n.899+13643T>C
ENST00000688922.2:c.136T>C	ENSP00000508742.2:p.Tyr46His
ENST00000700021.1:c.136T>C	ENSP00000514757.1:p.Tyr46His
ENST00000700022.1:c.136T>C	ENSP00000514758.1:p.Tyr46His
ENST00000706954.1:c.136T>C	ENSP00000516674.1:p.Tyr46His
ENST00000706955.1:c.*171T>C	ENSP00000516675.1:n.*171T>C
ENST00000686459.1:c.136T>C	ENSP00000508909.1:p.Tyr46His
ENST00000688158.1:c.*275+13643T>C	ENSP00000509254.1:n.*275+13643T>C
ENST00000688308.1:c.136T>C	ENSP00000508752.1:p.Tyr46His
ENST00000688922.1:c.5T>C
ENST00000693560.1:c.655T>C	ENSP00000509861.1:p.Tyr219His
ENST00000371953.8:c.136T>C MANE Select	ENSP00000361021.3:p.Tyr46His
ENST00000371953.7:c.136T>C	ENSP00000361021.3:p.Tyr46His
ENST00000462694.1:n.138T>C
ENST00000610634.1:c.34T>C	ENSP00000477517.1:p.Tyr12His
NM_000314.5:c.136T>C	NP_000305.3:p.Tyr46His
NM_000314.6:c.136T>C	NP_000305.3:p.Tyr46His
NM_001304717.2:c.655T>C	NP_001291646.2:p.Tyr219His
NM_001304718.1:c.-570T>C	NP_001291647.1:n.-570T>C
XM_006717926.2:c.136T>C	XP_006717989.1:p.Tyr46His
XM_011539981.1:c.136T>C	XP_011538283.1:p.Tyr46His
XM_011539982.1:c.68+13643T>C	XP_011538284.1:n.68+13643T>C
XR_945789.1:n.848T>C
XR_945790.1:n.848T>C
XR_945791.1:n.848T>C
NM_000314.7:c.136T>C	NP_000305.3:p.Tyr46His
NM_001304717.5:c.655T>C	NP_001291646.4:p.Tyr219His
NM_001304718.2:c.-570T>C	NP_001291647.1:n.-570T>C
NM_000314.8:c.136T>C MANE Select	NP_000305.3:p.Tyr46His