Canonical Allele Identifier: CA6892923

Gene: POLE

Linked Data

• ClinVar Variation Id: 405845
• ClinVar RCV Id: RCV001568888 ; RCV002480362
• dbSNP Id: rs775072147
• ExAC: 12:133220437 C / T
• gnomAD v2: 12-133220437-C-T
• gnomAD v3: 12-132643851-C-T
• gnomAD v4: 12-132643851-C-T
• COSMIC: COSM6000864 ; COSM6000865
• MyVariant Identifiers: chr12:g.133220437C>T (hg19) ; chr12:g.132643851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132643851C>T , CM000674.2:g.132643851C>T	GRCh38
NC_000012.11:g.133220437C>T , CM000674.1:g.133220437C>T	GRCh37
NC_000012.10:g.131730510C>T	NCBI36
NG_033840.1:g.48674G>A , LRG_789:g.48674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.1899G>A
ENST00000544870.6:c.1949G>A	ENSP00000479927.2:n.1949G>A
ENST00000699981.1:n.1930G>A
ENST00000699982.1:c.4130G>A
ENST00000699983.1:c.4834G>A
ENST00000699984.1:c.4130G>A
ENST00000320574.10:c.4276G>A MANE Select	ENSP00000322570.5:p.Val1426Ile
ENST00000672002.1:c.1949G>A	ENSP00000500233.1:n.1949G>A
ENST00000672742.1:c.*4482G>A	ENSP00000500279.1:n.*4482G>A
ENST00000320574.9:c.4276G>A	ENSP00000322570.5:p.Val1426Ile
ENST00000535270.5:c.4195G>A	ENSP00000445753.1:p.Val1399Ile
ENST00000537064.5:c.*4027G>A	ENSP00000442578.1:n.*4027G>A
NM_006231.3:c.4276G>A , LRG_789t1:c.4276G>A	NP_006222.2:p.Val1426Ile
XM_011534795.1:c.4276G>A	XP_011533097.1:p.Val1426Ile
XM_011534796.1:c.4147G>A	XP_011533098.1:p.Val1383Ile
XM_011534797.1:c.3355G>A	XP_011533099.1:p.Val1119Ile
XM_011534798.1:c.2938G>A	XP_011533100.1:p.Val980Ile
XM_011534799.1:c.4276G>A	XP_011533101.1:p.Val1426Ile
XM_011534800.1:c.4276G>A	XP_011533102.1:p.Val1426Ile
XM_011534802.1:c.1264G>A	XP_011533104.1:p.Val422Ile
XR_941395.1:n.4534G>A
XM_011534795.3:c.4276G>A	XP_011533097.1:p.Val1426Ile
XM_011534797.3:c.3355G>A	XP_011533099.1:p.Val1119Ile
XM_011534799.2:c.4276G>A	XP_011533101.1:p.Val1426Ile
XM_011534802.3:c.1264G>A	XP_011533104.1:p.Val422Ile
XR_002957338.1:n.4480G>A
XR_002957339.1:n.4480G>A
XR_941395.2:n.4529G>A
NM_006231.4:c.4276G>A MANE Select	NP_006222.2:p.Val1426Ile