Canonical Allele Identifier: CA377482091

Gene: PTEN

Linked Data

• ClinVar Variation Id: 468680
• ClinVar RCV Id: RCV000537012 ; RCV001016612
• dbSNP Id: rs121909238
• MyVariant Identifiers: chr10:g.89692794A>C (hg19) ; chr10:g.87933037A>C (hg38)
• ERepo: CA377482091/MONDO:0017623/003

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933037A>C , CM000672.2:g.87933037A>C	GRCh38
NC_000010.10:g.89692794A>C , CM000672.1:g.89692794A>C	GRCh37
NC_000010.9:g.89682774A>C	NCBI36
NG_007466.2:g.74599A>C , LRG_311:g.74599A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.278A>C	ENSP00000514759.2:p.His93Pro
ENST00000710265.1:c.278A>C	ENSP00000518161.1:p.His93Pro
ENST00000472832.3:c.278A>C	ENSP00000483066.2:p.His93Pro
ENST00000688158.2:n.1013A>C
ENST00000688922.2:c.*108A>C	ENSP00000508742.2:n.*108A>C
ENST00000700021.1:c.233A>C	ENSP00000514757.1:p.His78Pro
ENST00000700022.1:c.278A>C	ENSP00000514758.1:p.His93Pro
ENST00000700029.1:c.112A>C
ENST00000706954.1:c.278A>C	ENSP00000516674.1:p.His93Pro
ENST00000706955.1:c.*313A>C	ENSP00000516675.1:n.*313A>C
ENST00000686459.1:c.278A>C	ENSP00000508909.1:p.His93Pro
ENST00000688158.1:c.*389A>C	ENSP00000509254.1:n.*389A>C
ENST00000688308.1:c.278A>C	ENSP00000508752.1:p.His93Pro
ENST00000688922.1:c.199A>C
ENST00000693560.1:c.797A>C	ENSP00000509861.1:p.His266Pro
ENST00000371953.8:c.278A>C MANE Select	ENSP00000361021.3:p.His93Pro
ENST00000371953.7:c.278A>C	ENSP00000361021.3:p.His93Pro
ENST00000498703.1:n.104A>C
ENST00000610634.1:c.176A>C	ENSP00000477517.1:p.His59Pro
NM_000314.5:c.278A>C	NP_000305.3:p.His93Pro
NM_000314.6:c.278A>C	NP_000305.3:p.His93Pro
NM_001304717.2:c.797A>C	NP_001291646.2:p.His266Pro
NM_001304718.1:c.-473A>C	NP_001291647.1:n.-473A>C
XM_006717926.2:c.233A>C	XP_006717989.1:p.His78Pro
XM_011539981.1:c.278A>C	XP_011538283.1:p.His93Pro
XM_011539982.1:c.182A>C	XP_011538284.1:p.His61Pro
XR_945789.1:n.990A>C
XR_945790.1:n.990A>C
XR_945791.1:n.990A>C
NM_000314.7:c.278A>C	NP_000305.3:p.His93Pro
NM_001304717.5:c.797A>C	NP_001291646.4:p.His266Pro
NM_001304718.2:c.-473A>C	NP_001291647.1:n.-473A>C
NM_000314.8:c.278A>C MANE Select	NP_000305.3:p.His93Pro