Canonical Allele Identifier: CA387366512

Gene: POLE

Linked Data

• ClinVar Variation Id: 540727
• ClinVar RCV Id: RCV001565181 ; RCV002493042 ; RCV004544895
• dbSNP Id: rs1284697545
• gnomAD v3: 12-132625674-T-G
• gnomAD v4: 12-132625674-T-G
• MyVariant Identifiers: chr12:g.133202260T>G (hg19) ; chr12:g.132625674T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132625674T>G , CM000674.2:g.132625674T>G	GRCh38
NC_000012.11:g.133202260T>G , CM000674.1:g.133202260T>G	GRCh37
NC_000012.10:g.131712333T>G	NCBI36
NG_033840.1:g.66851A>C , LRG_789:g.66851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2166A>C	ENSP00000500921.1:n.2166A>C
ENST00000534922.6:n.541A>C
ENST00000544870.6:c.4281A>C	ENSP00000479927.2:n.4281A>C
ENST00000699981.1:n.4282A>C
ENST00000699982.1:c.6482A>C
ENST00000699983.1:c.7186A>C
ENST00000699984.1:c.6414A>C
ENST00000320574.10:c.6628A>C MANE Select	ENSP00000322570.5:p.Lys2210Gln
ENST00000434528.4:c.2166A>C	ENSP00000500921.1:n.2166A>C
ENST00000672002.1:c.4301A>C	ENSP00000500233.1:n.4301A>C
ENST00000672742.1:c.*6834A>C	ENSP00000500279.1:n.*6834A>C
ENST00000320574.9:c.6628A>C	ENSP00000322570.5:p.Lys2210Gln
ENST00000534922.5:n.541A>C
ENST00000535270.5:c.6547A>C	ENSP00000445753.1:p.Lys2183Gln
ENST00000537064.5:c.*6379A>C	ENSP00000442578.1:n.*6379A>C
ENST00000538196.1:n.400A>C
ENST00000541627.2:n.278A>C
ENST00000544692.5:n.1997A>C
NM_006231.3:c.6628A>C , LRG_789t1:c.6628A>C	NP_006222.2:p.Lys2210Gln
XM_011534795.1:c.6628A>C	XP_011533097.1:p.Lys2210Gln
XM_011534796.1:c.6499A>C	XP_011533098.1:p.Lys2167Gln
XM_011534797.1:c.5707A>C	XP_011533099.1:p.Lys1903Gln
XM_011534798.1:c.5290A>C	XP_011533100.1:p.Lys1764Gln
XM_011534802.1:c.3616A>C	XP_011533104.1:p.Lys1206Gln
XM_011534795.3:c.6628A>C	XP_011533097.1:p.Lys2210Gln
XM_011534797.3:c.5707A>C	XP_011533099.1:p.Lys1903Gln
XM_011534802.3:c.3616A>C	XP_011533104.1:p.Lys1206Gln
XR_002957339.1:n.7520A>C
NM_006231.4:c.6628A>C MANE Select	NP_006222.2:p.Lys2210Gln