Canonical Allele Identifier: CA6893622

Gene: POLE

Linked Data

• ClinVar Variation Id: 246203
• ClinVar RCV Id: RCV000235429 ; RCV002500835
• dbSNP Id: rs116360781
• ExAC: 12:133244183 C / T
• gnomAD v2: 12-133244183-C-T
• gnomAD v3: 12-132667597-C-T
• gnomAD v4: 12-132667597-C-T
• COSMIC: COSM5612734 ; COSM5612735
• MyVariant Identifiers: chr12:g.133244183C>T (hg19) ; chr12:g.132667597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132667597C>T , CM000674.2:g.132667597C>T	GRCh38
NC_000012.11:g.133244183C>T , CM000674.1:g.133244183C>T	GRCh37
NC_000012.10:g.131754256C>T	NCBI36
NG_033840.1:g.24928G>A , LRG_789:g.24928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699982.1:c.2079G>A
ENST00000699983.1:c.2079G>A
ENST00000699984.1:c.2079G>A
ENST00000320574.10:c.2225G>A MANE Select	ENSP00000322570.5:p.Arg742His
ENST00000672742.1:c.*1727G>A	ENSP00000500279.1:n.*1727G>A
ENST00000320574.9:c.2225G>A	ENSP00000322570.5:p.Arg742His
ENST00000535270.5:c.2144G>A	ENSP00000445753.1:p.Arg715His
ENST00000537064.5:c.*1272G>A	ENSP00000442578.1:n.*1272G>A
NM_006231.3:c.2225G>A , LRG_789t1:c.2225G>A	NP_006222.2:p.Arg742His
XM_011534795.1:c.2225G>A	XP_011533097.1:p.Arg742His
XM_011534796.1:c.2096G>A	XP_011533098.1:p.Arg699His
XM_011534797.1:c.1304G>A	XP_011533099.1:p.Arg435His
XM_011534798.1:c.887G>A	XP_011533100.1:p.Arg296His
XM_011534799.1:c.2225G>A	XP_011533101.1:p.Arg742His
XM_011534800.1:c.2225G>A	XP_011533102.1:p.Arg742His
XM_011534801.1:c.2225G>A	XP_011533103.1:p.Arg742His
XR_941395.1:n.2434G>A
XM_011534795.3:c.2225G>A	XP_011533097.1:p.Arg742His
XM_011534797.3:c.1304G>A	XP_011533099.1:p.Arg435His
XM_011534799.2:c.2225G>A	XP_011533101.1:p.Arg742His
XR_002957338.1:n.2429G>A
XR_002957339.1:n.2429G>A
XR_941395.2:n.2429G>A
NM_006231.4:c.2225G>A MANE Select	NP_006222.2:p.Arg742His