Canonical Allele Identifier: CA6892454

Gene: POLE

Linked Data

• ClinVar Variation Id: 403332
• ClinVar RCV Id: RCV000455415 ; RCV000464959 ; RCV000575608 ; RCV001788222 ; RCV003539892 ; RCV004533140
• dbSNP Id: rs145621558
• ExAC: 12:133214642 C / T
• gnomAD v2: 12-133214642-C-T
• gnomAD v3: 12-132638056-C-T
• gnomAD v4: 12-132638056-C-T
• MyVariant Identifiers: chr12:g.133214642C>T (hg19) ; chr12:g.132638056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132638056C>T , CM000674.2:g.132638056C>T	GRCh38
NC_000012.11:g.133214642C>T , CM000674.1:g.133214642C>T	GRCh37
NC_000012.10:g.131724715C>T	NCBI36
NG_033840.1:g.54469G>A , LRG_789:g.54469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3806G>A
ENST00000434528.5:c.1174G>A	ENSP00000500921.1:n.1174G>A
ENST00000544870.6:c.3309G>A	ENSP00000479927.2:n.3309G>A
ENST00000699981.1:n.3290G>A
ENST00000699982.1:c.5490G>A
ENST00000699983.1:c.6194G>A
ENST00000699984.1:c.5490G>A
ENST00000320574.10:c.5636G>A MANE Select	ENSP00000322570.5:p.Arg1879His
ENST00000434528.4:c.1174G>A	ENSP00000500921.1:n.1174G>A
ENST00000672002.1:c.3309G>A	ENSP00000500233.1:n.3309G>A
ENST00000672742.1:c.*5842G>A	ENSP00000500279.1:n.*5842G>A
ENST00000320574.9:c.5636G>A	ENSP00000322570.5:p.Arg1879His
ENST00000434528.3:n.619G>A
ENST00000535270.5:c.5555G>A	ENSP00000445753.1:p.Arg1852His
ENST00000537064.5:c.*5387G>A	ENSP00000442578.1:n.*5387G>A
ENST00000541213.5:n.1114G>A
NM_006231.3:c.5636G>A , LRG_789t1:c.5636G>A	NP_006222.2:p.Arg1879His
XM_011534795.1:c.5636G>A	XP_011533097.1:p.Arg1879His
XM_011534796.1:c.5507G>A	XP_011533098.1:p.Arg1836His
XM_011534797.1:c.4715G>A	XP_011533099.1:p.Arg1572His
XM_011534798.1:c.4298G>A	XP_011533100.1:p.Arg1433His
XM_011534802.1:c.2624G>A	XP_011533104.1:p.Arg875His
XM_011534795.3:c.5636G>A	XP_011533097.1:p.Arg1879His
XM_011534797.3:c.4715G>A	XP_011533099.1:p.Arg1572His
XM_011534802.3:c.2624G>A	XP_011533104.1:p.Arg875His
XR_002957338.1:n.6469G>A
XR_002957339.1:n.6182G>A
NM_006231.4:c.5636G>A MANE Select	NP_006222.2:p.Arg1879His