Canonical Allele Identifier: CA348819

Gene: POLE

Linked Data

• ClinVar Variation Id: 220785
• ClinVar RCV Id: RCV000204595 ; RCV000424665 ; RCV000586345 ; RCV000664288 ; RCV001355620
• dbSNP Id: rs117409343
• ExAC: 12:133244242 C / T
• gnomAD v2: 12-133244242-C-T
• gnomAD v3: 12-132667656-C-T
• gnomAD v4: 12-132667656-C-T
• MyVariant Identifiers: chr12:g.133244242C>T (hg19) ; chr12:g.132667656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132667656C>T , CM000674.2:g.132667656C>T	GRCh38
NC_000012.11:g.133244242C>T , CM000674.1:g.133244242C>T	GRCh37
NC_000012.10:g.131754315C>T	NCBI36
NG_033840.1:g.24869G>A , LRG_789:g.24869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699982.1:c.2028-8G>A
ENST00000699983.1:c.2028-8G>A
ENST00000699984.1:c.2028-8G>A
ENST00000320574.10:c.2174-8G>A MANE Select	ENSP00000322570.5:n.2174-8G>A
ENST00000672742.1:c.*1676-8G>A	ENSP00000500279.1:n.*1676-8G>A
ENST00000320574.9:c.2174-8G>A	ENSP00000322570.5:n.2174-8G>A
ENST00000535270.5:c.2093-8G>A	ENSP00000445753.1:n.2093-8G>A
ENST00000537064.5:c.*1221-8G>A	ENSP00000442578.1:n.*1221-8G>A
NM_006231.3:c.2174-8G>A , LRG_789t1:c.2174-8G>A	NP_006222.2:n.2174-8G>A
XM_011534795.1:c.2174-8G>A	XP_011533097.1:n.2174-8G>A
XM_011534796.1:c.2045-8G>A	XP_011533098.1:n.2045-8G>A
XM_011534797.1:c.1253-8G>A	XP_011533099.1:n.1253-8G>A
XM_011534798.1:c.836-8G>A	XP_011533100.1:n.836-8G>A
XM_011534799.1:c.2174-8G>A	XP_011533101.1:n.2174-8G>A
XM_011534800.1:c.2174-8G>A	XP_011533102.1:n.2174-8G>A
XM_011534801.1:c.2174-8G>A	XP_011533103.1:n.2174-8G>A
XR_941395.1:n.2383-8G>A
XM_011534795.3:c.2174-8G>A	XP_011533097.1:n.2174-8G>A
XM_011534797.3:c.1253-8G>A	XP_011533099.1:n.1253-8G>A
XM_011534799.2:c.2174-8G>A	XP_011533101.1:n.2174-8G>A
XR_002957338.1:n.2378-8G>A
XR_002957339.1:n.2378-8G>A
XR_941395.2:n.2378-8G>A
NM_006231.4:c.2174-8G>A MANE Select	NP_006222.2:n.2174-8G>A