Canonical Allele Identifier: CA16606457

Gene: POLE

Linked Data

• ClinVar Variation Id: 387777
• ClinVar RCV Id: RCV000437103 ; RCV003657009 ; RCV004022424
• dbSNP Id: rs1012445618
• gnomAD v4: 12-132673173-C-T
• MyVariant Identifiers: chr12:g.133249759C>T (hg19) ; chr12:g.132673173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673173C>T , CM000674.2:g.132673173C>T	GRCh38
NC_000012.11:g.133249759C>T , CM000674.1:g.133249759C>T	GRCh37
NC_000012.10:g.131759832C>T	NCBI36
NG_033840.1:g.19352G>A , LRG_789:g.19352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.172G>A
ENST00000545015.2:n.1491G>A
ENST00000699982.1:c.1318G>A
ENST00000699983.1:c.1318G>A
ENST00000699984.1:c.1318G>A
ENST00000320574.10:c.1464G>A MANE Select	ENSP00000322570.5:p.Glu488=
ENST00000672742.1:c.*966G>A	ENSP00000500279.1:n.*966G>A
ENST00000320574.9:c.1464G>A	ENSP00000322570.5:p.Glu488=
ENST00000535270.5:c.1383G>A	ENSP00000445753.1:p.Glu461=
ENST00000535934.2:n.1339G>A
ENST00000537064.5:c.*511G>A	ENSP00000442578.1:n.*511G>A
ENST00000539215.5:n.172G>A
ENST00000545015.1:n.61G>A
NM_006231.3:c.1464G>A , LRG_789t1:c.1464G>A	NP_006222.2:p.Glu488=
XM_011534795.1:c.1464G>A	XP_011533097.1:p.Glu488=
XM_011534796.1:c.1335G>A	XP_011533098.1:p.Glu445=
XM_011534797.1:c.543G>A	XP_011533099.1:p.Glu181=
XM_011534798.1:c.126G>A	XP_011533100.1:p.Glu42=
XM_011534799.1:c.1464G>A	XP_011533101.1:p.Glu488=
XM_011534800.1:c.1464G>A	XP_011533102.1:p.Glu488=
XM_011534801.1:c.1464G>A	XP_011533103.1:p.Glu488=
XR_941395.1:n.1673G>A
XM_011534795.3:c.1464G>A	XP_011533097.1:p.Glu488=
XM_011534797.3:c.543G>A	XP_011533099.1:p.Glu181=
XM_011534799.2:c.1464G>A	XP_011533101.1:p.Glu488=
XR_002957338.1:n.1668G>A
XR_002957339.1:n.1668G>A
XR_941395.2:n.1668G>A
NM_006231.4:c.1464G>A MANE Select	NP_006222.2:p.Glu488=