Canonical Allele Identifier: CA482848421

Gene: POLE

Linked Data

• ClinVar Variation Id: 484482
• ClinVar RCV Id: RCV000573309 ; RCV000615070 ; RCV003767196
• dbSNP Id: rs1483311551
• gnomAD v2: 12-133201545-G-A
• gnomAD v4: 12-132624959-G-A
• MyVariant Identifiers: chr12:g.133201545G>A (hg19) ; chr12:g.132624959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624959G>A , CM000674.2:g.132624959G>A	GRCh38
NC_000012.11:g.133201545G>A , CM000674.1:g.133201545G>A	GRCh37
NC_000012.10:g.131711618G>A	NCBI36
NG_033840.1:g.67566C>T , LRG_789:g.67566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2231C>T	ENSP00000500921.1:n.2231C>T
ENST00000544870.6:c.4346C>T	ENSP00000479927.2:n.4346C>T
ENST00000699981.1:n.4347C>T
ENST00000699982.1:c.6547C>T
ENST00000699983.1:c.7251C>T
ENST00000699984.1:c.6479C>T
ENST00000320574.10:c.6693C>T MANE Select	ENSP00000322570.5:p.Ser2231=
ENST00000434528.4:c.2231C>T	ENSP00000500921.1:n.2231C>T
ENST00000672002.1:c.4366C>T	ENSP00000500233.1:n.4366C>T
ENST00000672742.1:c.*6899C>T	ENSP00000500279.1:n.*6899C>T
ENST00000320574.9:c.6693C>T	ENSP00000322570.5:p.Ser2231=
ENST00000534922.5:n.1256C>T
ENST00000535270.5:c.6612C>T	ENSP00000445753.1:p.Ser2204=
ENST00000537064.5:c.*6444C>T	ENSP00000442578.1:n.*6444C>T
ENST00000541627.2:n.993C>T
ENST00000544692.5:n.2062C>T
NM_006231.3:c.6693C>T , LRG_789t1:c.6693C>T	NP_006222.2:p.Ser2231=
XR_002957339.1:n.7585C>T
NM_006231.4:c.6693C>T MANE Select	NP_006222.2:p.Ser2231=