Canonical Allele Identifier: CA246299122

Gene: POLE

Linked Data

• ClinVar Variation Id: 1502854
• ClinVar RCV Id: RCV003773340
• dbSNP Id: rs143690372
• MyVariant Identifiers: chr12:g.133253202T>C (hg19) ; chr12:g.132676616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676616T>C , CM000674.2:g.132676616T>C	GRCh38
NC_000012.11:g.133253202T>C , CM000674.1:g.133253202T>C	GRCh37
NC_000012.10:g.131763275T>C	NCBI36
NG_033840.1:g.15909A>G , LRG_789:g.15909A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.866A>G
ENST00000699982.1:c.685A>G
ENST00000699983.1:c.685A>G
ENST00000699984.1:c.685A>G
ENST00000320574.10:c.839A>G MANE Select	ENSP00000322570.5:p.Lys280Arg
ENST00000672742.1:c.*333A>G	ENSP00000500279.1:n.*333A>G
ENST00000320574.9:c.839A>G	ENSP00000322570.5:p.Lys280Arg
ENST00000535270.5:c.758A>G	ENSP00000445753.1:p.Lys253Arg
ENST00000537064.5:c.839A>G	ENSP00000442578.1:p.Lys280Arg
NM_006231.3:c.839A>G , LRG_789t1:c.839A>G	NP_006222.2:p.Lys280Arg
XM_011534795.1:c.839A>G	XP_011533097.1:p.Lys280Arg
XM_011534796.1:c.710A>G	XP_011533098.1:p.Lys237Arg
XM_011534797.1:c.-63A>G	XP_011533099.1:n.-63A>G
XM_011534799.1:c.839A>G	XP_011533101.1:p.Lys280Arg
XM_011534800.1:c.839A>G	XP_011533102.1:p.Lys280Arg
XM_011534801.1:c.839A>G	XP_011533103.1:p.Lys280Arg
XR_941395.1:n.1048A>G
XM_011534795.3:c.839A>G	XP_011533097.1:p.Lys280Arg
XM_011534797.3:c.-63A>G	XP_011533099.1:n.-63A>G
XM_011534799.2:c.839A>G	XP_011533101.1:p.Lys280Arg
XR_002957338.1:n.1043A>G
XR_002957339.1:n.1043A>G
XR_941395.2:n.1043A>G
NM_006231.4:c.839A>G MANE Select	NP_006222.2:p.Lys280Arg