Canonical Allele Identifier: CA2622060333

Gene: POLE

Linked Data

• ClinVar Variation Id: 2752488
• ClinVar RCV Id: RCV003566438
• dbSNP Id: rs1555228569
• gnomAD v4: 12-132673569-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673569A>G , CM000674.2:g.132673569A>G	GRCh38
NC_000012.11:g.133250155A>G , CM000674.1:g.133250155A>G	GRCh37
NC_000012.10:g.131760228A>G	NCBI36
NG_033840.1:g.18956T>C , LRG_789:g.18956T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539215.6:c.67+6T>C
ENST00000545015.2:n.1386+6T>C
ENST00000699982.1:c.1213+6T>C
ENST00000699983.1:c.1213+6T>C
ENST00000699984.1:c.1213+6T>C
ENST00000320574.10:c.1359+6T>C MANE Select	ENSP00000322570.5:n.1359+6T>C
ENST00000672742.1:c.*861+6T>C	ENSP00000500279.1:n.*861+6T>C
ENST00000320574.9:c.1359+6T>C	ENSP00000322570.5:n.1359+6T>C
ENST00000535270.5:c.1278+6T>C	ENSP00000445753.1:n.1278+6T>C
ENST00000535934.2:n.1234+6T>C
ENST00000537064.5:c.*406+6T>C	ENSP00000442578.1:n.*406+6T>C
ENST00000539215.5:n.67+6T>C
NM_006231.3:c.1359+6T>C , LRG_789t1:c.1359+6T>C	NP_006222.2:n.1359+6T>C
XM_011534795.1:c.1359+6T>C	XP_011533097.1:n.1359+6T>C
XM_011534796.1:c.1230+6T>C	XP_011533098.1:n.1230+6T>C
XM_011534797.1:c.438+6T>C	XP_011533099.1:n.438+6T>C
XM_011534798.1:c.-45T>C	XP_011533100.1:n.-45T>C
XM_011534799.1:c.1359+6T>C	XP_011533101.1:n.1359+6T>C
XM_011534800.1:c.1359+6T>C	XP_011533102.1:n.1359+6T>C
XM_011534801.1:c.1359+6T>C	XP_011533103.1:n.1359+6T>C
XR_941395.1:n.1568+6T>C
XM_011534795.3:c.1359+6T>C	XP_011533097.1:n.1359+6T>C
XM_011534797.3:c.438+6T>C	XP_011533099.1:n.438+6T>C
XM_011534799.2:c.1359+6T>C	XP_011533101.1:n.1359+6T>C
XR_002957338.1:n.1563+6T>C
XR_002957339.1:n.1563+6T>C
XR_941395.2:n.1563+6T>C
NM_006231.4:c.1359+6T>C MANE Select	NP_006222.2:n.1359+6T>C