Canonical Allele Identifier: CA387376134
Gene: POLE HGNC NCBI

Linked Data

ClinVar Variation Id: 571244
ClinVar RCV Id: RCV000692338 RCV000709251 RCV002343463
dbSNP Id: rs1565935906
gnomAD v4: 12-132641737-T-C
MyVariant Identifiers: chr12:g.133218323T>C (hg19) chr12:g.132641737T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132641737T>C , CM000674.2:g.132641737T>C GRCh38
NC_000012.11:g.133218323T>C , CM000674.1:g.133218323T>C GRCh37
NC_000012.10:g.131728396T>C NCBI36
NG_033840.1:g.50788A>G , LRG_789:g.50788A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000416953.3:n.2829A>G
ENST00000434528.5:c.197A>G ENSP00000500921.1:p.Gln66Arg
ENST00000544870.6:c.2961A>G ENSP00000479927.2:n.2961A>G
ENST00000699981.1:n.2942A>G
ENST00000699982.1:c.5142A>G
ENST00000699983.1:c.5846A>G
ENST00000699984.1:c.5142A>G
ENST00000320574.10:c.5288A>G MANE Select ENSP00000322570.5:p.Gln1763Arg
ENST00000434528.4:c.197A>G ENSP00000500921.1:p.Gln66Arg
ENST00000672002.1:c.2961A>G ENSP00000500233.1:n.2961A>G
ENST00000672742.1:c.*5494A>G ENSP00000500279.1:n.*5494A>G
ENST00000320574.9:c.5288A>G ENSP00000322570.5:p.Gln1763Arg
ENST00000535270.5:c.5207A>G ENSP00000445753.1:p.Gln1736Arg
ENST00000537064.5:c.*5039A>G ENSP00000442578.1:n.*5039A>G
ENST00000542362.1:n.145A>G
NM_006231.3:c.5288A>G , LRG_789t1:c.5288A>G NP_006222.2:p.Gln1763Arg
XM_011534795.1:c.5288A>G XP_011533097.1:p.Gln1763Arg
XM_011534796.1:c.5159A>G XP_011533098.1:p.Gln1720Arg
XM_011534797.1:c.4367A>G XP_011533099.1:p.Gln1456Arg
XM_011534798.1:c.3950A>G XP_011533100.1:p.Gln1317Arg
XM_011534799.1:c.5288A>G XP_011533101.1:p.Gln1763Arg
XM_011534800.1:c.5288A>G XP_011533102.1:p.Gln1763Arg
XM_011534802.1:c.2276A>G XP_011533104.1:p.Gln759Arg
XM_011534795.3:c.5288A>G XP_011533097.1:p.Gln1763Arg
XM_011534797.3:c.4367A>G XP_011533099.1:p.Gln1456Arg
XM_011534799.2:c.5288A>G XP_011533101.1:p.Gln1763Arg
XM_011534802.3:c.2276A>G XP_011533104.1:p.Gln759Arg
XR_002957338.1:n.5492A>G
XR_002957339.1:n.5492A>G
XR_941395.2:n.5541A>G
NM_006231.4:c.5288A>G MANE Select NP_006222.2:p.Gln1763Arg
Search 100 bp 5'
Search 100 bp 3'