Canonical Allele Identifier: CA387358457

Gene: POLE

Linked Data

• ClinVar Variation Id: 1772114
• ClinVar RCV Id: RCV002391676 ; RCV003574943
• MyVariant Identifiers: chr12:g.133249808T>C (hg19) ; chr12:g.132673222T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673222T>C , CM000674.2:g.132673222T>C	GRCh38
NC_000012.11:g.133249808T>C , CM000674.1:g.133249808T>C	GRCh37
NC_000012.10:g.131759881T>C	NCBI36
NG_033840.1:g.19303A>G , LRG_789:g.19303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.123A>G
ENST00000545015.2:n.1442A>G
ENST00000699982.1:c.1269A>G
ENST00000699983.1:c.1269A>G
ENST00000699984.1:c.1269A>G
ENST00000320574.10:c.1415A>G MANE Select	ENSP00000322570.5:p.Lys472Arg
ENST00000672742.1:c.*917A>G	ENSP00000500279.1:n.*917A>G
ENST00000320574.9:c.1415A>G	ENSP00000322570.5:p.Lys472Arg
ENST00000535270.5:c.1334A>G	ENSP00000445753.1:p.Lys445Arg
ENST00000535934.2:n.1290A>G
ENST00000537064.5:c.*462A>G	ENSP00000442578.1:n.*462A>G
ENST00000539215.5:n.123A>G
ENST00000545015.1:n.12A>G
NM_006231.3:c.1415A>G , LRG_789t1:c.1415A>G	NP_006222.2:p.Lys472Arg
XM_011534795.1:c.1415A>G	XP_011533097.1:p.Lys472Arg
XM_011534796.1:c.1286A>G	XP_011533098.1:p.Lys429Arg
XM_011534797.1:c.494A>G	XP_011533099.1:p.Lys165Arg
XM_011534798.1:c.77A>G	XP_011533100.1:p.Lys26Arg
XM_011534799.1:c.1415A>G	XP_011533101.1:p.Lys472Arg
XM_011534800.1:c.1415A>G	XP_011533102.1:p.Lys472Arg
XM_011534801.1:c.1415A>G	XP_011533103.1:p.Lys472Arg
XR_941395.1:n.1624A>G
XM_011534795.3:c.1415A>G	XP_011533097.1:p.Lys472Arg
XM_011534797.3:c.494A>G	XP_011533099.1:p.Lys165Arg
XM_011534799.2:c.1415A>G	XP_011533101.1:p.Lys472Arg
XR_002957338.1:n.1619A>G
XR_002957339.1:n.1619A>G
XR_941395.2:n.1619A>G
NM_006231.4:c.1415A>G MANE Select	NP_006222.2:p.Lys472Arg