Canonical Allele Identifier: CA246294106

Gene: POLE

Linked Data

• ClinVar Variation Id: 484487
• ClinVar RCV Id: RCV000570966 ; RCV003539960
• dbSNP Id: rs952195021
• gnomAD v3: 12-132673214-G-T
• gnomAD v4: 12-132673214-G-T
• MyVariant Identifiers: chr12:g.133249800G>T (hg19) ; chr12:g.132673214G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673214G>T , CM000674.2:g.132673214G>T	GRCh38
NC_000012.11:g.133249800G>T , CM000674.1:g.133249800G>T	GRCh37
NC_000012.10:g.131759873G>T	NCBI36
NG_033840.1:g.19311C>A , LRG_789:g.19311C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.131C>A
ENST00000545015.2:n.1450C>A
ENST00000699982.1:c.1277C>A
ENST00000699983.1:c.1277C>A
ENST00000699984.1:c.1277C>A
ENST00000320574.10:c.1423C>A MANE Select	ENSP00000322570.5:p.His475Asn
ENST00000672742.1:c.*925C>A	ENSP00000500279.1:n.*925C>A
ENST00000320574.9:c.1423C>A	ENSP00000322570.5:p.His475Asn
ENST00000535270.5:c.1342C>A	ENSP00000445753.1:p.His448Asn
ENST00000535934.2:n.1298C>A
ENST00000537064.5:c.*470C>A	ENSP00000442578.1:n.*470C>A
ENST00000539215.5:n.131C>A
ENST00000545015.1:n.20C>A
NM_006231.3:c.1423C>A , LRG_789t1:c.1423C>A	NP_006222.2:p.His475Asn
XM_011534795.1:c.1423C>A	XP_011533097.1:p.His475Asn
XM_011534796.1:c.1294C>A	XP_011533098.1:p.His432Asn
XM_011534797.1:c.502C>A	XP_011533099.1:p.His168Asn
XM_011534798.1:c.85C>A	XP_011533100.1:p.His29Asn
XM_011534799.1:c.1423C>A	XP_011533101.1:p.His475Asn
XM_011534800.1:c.1423C>A	XP_011533102.1:p.His475Asn
XM_011534801.1:c.1423C>A	XP_011533103.1:p.His475Asn
XR_941395.1:n.1632C>A
XM_011534795.3:c.1423C>A	XP_011533097.1:p.His475Asn
XM_011534797.3:c.502C>A	XP_011533099.1:p.His168Asn
XM_011534799.2:c.1423C>A	XP_011533101.1:p.His475Asn
XR_002957338.1:n.1627C>A
XR_002957339.1:n.1627C>A
XR_941395.2:n.1627C>A
NM_006231.4:c.1423C>A MANE Select	NP_006222.2:p.His475Asn