Canonical Allele Identifier: CA387393524

Gene: POLE

Linked Data

• ClinVar Variation Id: 966665
• ClinVar RCV Id: RCV001241399
• dbSNP Id: rs2042681407
• MyVariant Identifiers: chr12:g.133238114T>C (hg19) ; chr12:g.132661528T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132661528T>C , CM000674.2:g.132661528T>C	GRCh38
NC_000012.11:g.133238114T>C , CM000674.1:g.133238114T>C	GRCh37
NC_000012.10:g.131748187T>C	NCBI36
NG_033840.1:g.30997A>G , LRG_789:g.30997A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000544870.6:c.484A>G	ENSP00000479927.2:p.Arg162Gly
ENST00000699982.1:c.2717A>G
ENST00000699983.1:c.2717A>G
ENST00000699984.1:c.2717A>G
ENST00000320574.10:c.2863A>G MANE Select	ENSP00000322570.5:p.Arg955Gly
ENST00000672002.1:c.484A>G	ENSP00000500233.1:p.Arg162Gly
ENST00000672742.1:c.*2365A>G	ENSP00000500279.1:n.*2365A>G
ENST00000320574.9:c.2863A>G	ENSP00000322570.5:p.Arg955Gly
ENST00000535270.5:c.2782A>G	ENSP00000445753.1:p.Arg928Gly
ENST00000537064.5:c.*1910A>G	ENSP00000442578.1:n.*1910A>G
NM_006231.3:c.2863A>G , LRG_789t1:c.2863A>G	NP_006222.2:p.Arg955Gly
XM_011534795.1:c.2863A>G	XP_011533097.1:p.Arg955Gly
XM_011534796.1:c.2734A>G	XP_011533098.1:p.Arg912Gly
XM_011534797.1:c.1942A>G	XP_011533099.1:p.Arg648Gly
XM_011534798.1:c.1525A>G	XP_011533100.1:p.Arg509Gly
XM_011534799.1:c.2863A>G	XP_011533101.1:p.Arg955Gly
XM_011534800.1:c.2863A>G	XP_011533102.1:p.Arg955Gly
XM_011534801.1:c.2863A>G	XP_011533103.1:p.Arg955Gly
XR_941395.1:n.3072A>G
XM_011534795.3:c.2863A>G	XP_011533097.1:p.Arg955Gly
XM_011534797.3:c.1942A>G	XP_011533099.1:p.Arg648Gly
XM_011534799.2:c.2863A>G	XP_011533101.1:p.Arg955Gly
XR_002957338.1:n.3067A>G
XR_002957339.1:n.3067A>G
XR_941395.2:n.3067A>G
NM_006231.4:c.2863A>G MANE Select	NP_006222.2:p.Arg955Gly