Canonical Allele Identifier: CA387393519

Gene: POLE

Linked Data

• ClinVar Variation Id: 2841193
• ClinVar RCV Id: RCV003718882
• gnomAD v4: 12-132661527-C-G
• MyVariant Identifiers: chr12:g.133238113C>G (hg19) ; chr12:g.132661527C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132661527C>G , CM000674.2:g.132661527C>G	GRCh38
NC_000012.11:g.133238113C>G , CM000674.1:g.133238113C>G	GRCh37
NC_000012.10:g.131748186C>G	NCBI36
NG_033840.1:g.30998G>C , LRG_789:g.30998G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000544870.6:c.485G>C	ENSP00000479927.2:p.Arg162Thr
ENST00000699982.1:c.2718G>C
ENST00000699983.1:c.2718G>C
ENST00000699984.1:c.2718G>C
ENST00000320574.10:c.2864G>C MANE Select	ENSP00000322570.5:p.Arg955Thr
ENST00000672002.1:c.485G>C	ENSP00000500233.1:p.Arg162Thr
ENST00000672742.1:c.*2366G>C	ENSP00000500279.1:n.*2366G>C
ENST00000320574.9:c.2864G>C	ENSP00000322570.5:p.Arg955Thr
ENST00000535270.5:c.2783G>C	ENSP00000445753.1:p.Arg928Thr
ENST00000537064.5:c.*1911G>C	ENSP00000442578.1:n.*1911G>C
NM_006231.3:c.2864G>C , LRG_789t1:c.2864G>C	NP_006222.2:p.Arg955Thr
XM_011534795.1:c.2864G>C	XP_011533097.1:p.Arg955Thr
XM_011534796.1:c.2735G>C	XP_011533098.1:p.Arg912Thr
XM_011534797.1:c.1943G>C	XP_011533099.1:p.Arg648Thr
XM_011534798.1:c.1526G>C	XP_011533100.1:p.Arg509Thr
XM_011534799.1:c.2864G>C	XP_011533101.1:p.Arg955Thr
XM_011534800.1:c.2864G>C	XP_011533102.1:p.Arg955Thr
XM_011534801.1:c.2864G>C	XP_011533103.1:p.Arg955Thr
XR_941395.1:n.3073G>C
XM_011534795.3:c.2864G>C	XP_011533097.1:p.Arg955Thr
XM_011534797.3:c.1943G>C	XP_011533099.1:p.Arg648Thr
XM_011534799.2:c.2864G>C	XP_011533101.1:p.Arg955Thr
XR_002957338.1:n.3068G>C
XR_002957339.1:n.3068G>C
XR_941395.2:n.3068G>C
NM_006231.4:c.2864G>C MANE Select	NP_006222.2:p.Arg955Thr