Canonical Allele Identifier: CA482849647

Gene: POLE

Linked Data

• ClinVar Variation Id: 540861
• ClinVar RCV Id: RCV003655174
• dbSNP Id: rs1202536047
• COSMIC: COSM5722094 ; COSM5722095
• MyVariant Identifiers: chr12:g.133248891G>A (hg19) ; chr12:g.132672305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672305G>A , CM000674.2:g.132672305G>A	GRCh38
NC_000012.11:g.133248891G>A , CM000674.1:g.133248891G>A	GRCh37
NC_000012.10:g.131758964G>A	NCBI36
NG_033840.1:g.20220C>T , LRG_789:g.20220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.459C>T
ENST00000699982.1:c.1558C>T
ENST00000699983.1:c.1558C>T
ENST00000699984.1:c.1558C>T
ENST00000320574.10:c.1704C>T MANE Select	ENSP00000322570.5:p.Asp568=
ENST00000672742.1:c.*1206C>T	ENSP00000500279.1:n.*1206C>T
ENST00000320574.9:c.1704C>T	ENSP00000322570.5:p.Asp568=
ENST00000535270.5:c.1623C>T	ENSP00000445753.1:p.Asp541=
ENST00000537064.5:c.*751C>T	ENSP00000442578.1:n.*751C>T
ENST00000539215.5:n.459C>T
NM_006231.3:c.1704C>T , LRG_789t1:c.1704C>T	NP_006222.2:p.Asp568=
XM_011534795.1:c.1704C>T	XP_011533097.1:p.Asp568=
XM_011534796.1:c.1575C>T	XP_011533098.1:p.Asp525=
XM_011534797.1:c.783C>T	XP_011533099.1:p.Asp261=
XM_011534798.1:c.366C>T	XP_011533100.1:p.Asp122=
XM_011534799.1:c.1704C>T	XP_011533101.1:p.Asp568=
XM_011534800.1:c.1704C>T	XP_011533102.1:p.Asp568=
XM_011534801.1:c.1704C>T	XP_011533103.1:p.Asp568=
XR_941395.1:n.1913C>T
XM_011534795.3:c.1704C>T	XP_011533097.1:p.Asp568=
XM_011534797.3:c.783C>T	XP_011533099.1:p.Asp261=
XM_011534799.2:c.1704C>T	XP_011533101.1:p.Asp568=
XR_002957338.1:n.1908C>T
XR_002957339.1:n.1908C>T
XR_941395.2:n.1908C>T
NM_006231.4:c.1704C>T MANE Select	NP_006222.2:p.Asp568=