Canonical Allele Identifier: CA482848598

Gene: POLE

Linked Data

• ClinVar Variation Id: 484476
• ClinVar RCV Id: RCV000562776 ; RCV000760037 ; RCV001458996
• dbSNP Id: rs540203276
• gnomAD v4: 12-132624781-C-G
• MyVariant Identifiers: chr12:g.133201367C>G (hg19) ; chr12:g.132624781C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624781C>G , CM000674.2:g.132624781C>G	GRCh38
NC_000012.11:g.133201367C>G , CM000674.1:g.133201367C>G	GRCh37
NC_000012.10:g.131711440C>G	NCBI36
NG_033840.1:g.67744G>C , LRG_789:g.67744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2315G>C	ENSP00000500921.1:n.2315G>C
ENST00000544870.6:c.4430G>C	ENSP00000479927.2:n.4430G>C
ENST00000699981.1:n.4431G>C
ENST00000699982.1:c.6631G>C
ENST00000699983.1:c.7335G>C
ENST00000699984.1:c.6563G>C
ENST00000320574.10:c.6777G>C MANE Select	ENSP00000322570.5:p.Arg2259=
ENST00000434528.4:c.2315G>C	ENSP00000500921.1:n.2315G>C
ENST00000672002.1:c.4450G>C	ENSP00000500233.1:n.4450G>C
ENST00000672742.1:c.*6983G>C	ENSP00000500279.1:n.*6983G>C
ENST00000320574.9:c.6777G>C	ENSP00000322570.5:p.Arg2259=
ENST00000534922.5:n.1434G>C
ENST00000535270.5:c.6696G>C	ENSP00000445753.1:p.Arg2232=
ENST00000537064.5:c.*6528G>C	ENSP00000442578.1:n.*6528G>C
ENST00000541627.2:n.1077G>C
ENST00000544692.5:n.2146G>C
NM_006231.3:c.6777G>C , LRG_789t1:c.6777G>C	NP_006222.2:p.Arg2259=
XR_002957339.1:n.7669G>C
NM_006231.4:c.6777G>C MANE Select	NP_006222.2:p.Arg2259=