Canonical Allele Identifier: CA387359577

Gene: POLE

Linked Data

• dbSNP Id: rs745356467
• gnomAD v4: 12-132673670-G-T
• COSMIC: COSM3748551 ; COSM3748552
• MyVariant Identifiers: chr12:g.133250256G>T (hg19) ; chr12:g.132673670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673670G>T , CM000674.2:g.132673670G>T	GRCh38
NC_000012.11:g.133250256G>T , CM000674.1:g.133250256G>T	GRCh37
NC_000012.10:g.131760329G>T	NCBI36
NG_033840.1:g.18855C>A , LRG_789:g.18855C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.1291C>A
ENST00000699982.1:c.1118C>A
ENST00000699983.1:c.1118C>A
ENST00000699984.1:c.1118C>A
ENST00000320574.10:c.1264C>A MANE Select	ENSP00000322570.5:p.His422Asn
ENST00000672742.1:c.*766C>A	ENSP00000500279.1:n.*766C>A
ENST00000320574.9:c.1264C>A	ENSP00000322570.5:p.His422Asn
ENST00000535270.5:c.1183C>A	ENSP00000445753.1:p.His395Asn
ENST00000535934.2:n.1139C>A
ENST00000537064.5:c.*311C>A	ENSP00000442578.1:n.*311C>A
NM_006231.3:c.1264C>A , LRG_789t1:c.1264C>A	NP_006222.2:p.His422Asn
XM_011534795.1:c.1264C>A	XP_011533097.1:p.His422Asn
XM_011534796.1:c.1135C>A	XP_011533098.1:p.His379Asn
XM_011534797.1:c.343C>A	XP_011533099.1:p.His115Asn
XM_011534799.1:c.1264C>A	XP_011533101.1:p.His422Asn
XM_011534800.1:c.1264C>A	XP_011533102.1:p.His422Asn
XM_011534801.1:c.1264C>A	XP_011533103.1:p.His422Asn
XR_941395.1:n.1473C>A
XM_011534795.3:c.1264C>A	XP_011533097.1:p.His422Asn
XM_011534797.3:c.343C>A	XP_011533099.1:p.His115Asn
XM_011534799.2:c.1264C>A	XP_011533101.1:p.His422Asn
XR_002957338.1:n.1468C>A
XR_002957339.1:n.1468C>A
XR_941395.2:n.1468C>A
NM_006231.4:c.1264C>A MANE Select	NP_006222.2:p.His422Asn