Canonical Allele Identifier: CA387356253

Gene: POLE

Linked Data

• ClinVar Variation Id: 2099731
• ClinVar RCV Id: RCV003308431 ; RCV003658567
• dbSNP Id: rs2042944634
• MyVariant Identifiers: chr12:g.133248824C>T (hg19) ; chr12:g.132672238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672238C>T , CM000674.2:g.132672238C>T	GRCh38
NC_000012.11:g.133248824C>T , CM000674.1:g.133248824C>T	GRCh37
NC_000012.10:g.131758897C>T	NCBI36
NG_033840.1:g.20287G>A , LRG_789:g.20287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.526G>A
ENST00000699982.1:c.1625G>A
ENST00000699983.1:c.1625G>A
ENST00000699984.1:c.1625G>A
ENST00000320574.10:c.1771G>A MANE Select	ENSP00000322570.5:p.Glu591Lys
ENST00000672742.1:c.*1273G>A	ENSP00000500279.1:n.*1273G>A
ENST00000320574.9:c.1771G>A	ENSP00000322570.5:p.Glu591Lys
ENST00000535270.5:c.1690G>A	ENSP00000445753.1:p.Glu564Lys
ENST00000537064.5:c.*818G>A	ENSP00000442578.1:n.*818G>A
NM_006231.3:c.1771G>A , LRG_789t1:c.1771G>A	NP_006222.2:p.Glu591Lys
XM_011534795.1:c.1771G>A	XP_011533097.1:p.Glu591Lys
XM_011534796.1:c.1642G>A	XP_011533098.1:p.Glu548Lys
XM_011534797.1:c.850G>A	XP_011533099.1:p.Glu284Lys
XM_011534798.1:c.433G>A	XP_011533100.1:p.Glu145Lys
XM_011534799.1:c.1771G>A	XP_011533101.1:p.Glu591Lys
XM_011534800.1:c.1771G>A	XP_011533102.1:p.Glu591Lys
XM_011534801.1:c.1771G>A	XP_011533103.1:p.Glu591Lys
XR_941395.1:n.1980G>A
XM_011534795.3:c.1771G>A	XP_011533097.1:p.Glu591Lys
XM_011534797.3:c.850G>A	XP_011533099.1:p.Glu284Lys
XM_011534799.2:c.1771G>A	XP_011533101.1:p.Glu591Lys
XR_002957338.1:n.1975G>A
XR_002957339.1:n.1975G>A
XR_941395.2:n.1975G>A
NM_006231.4:c.1771G>A MANE Select	NP_006222.2:p.Glu591Lys