Canonical Allele Identifier: CA482722820

Gene: POLE

Linked Data

• ClinVar Variation Id: 581780
• ClinVar RCV Id: RCV001569670 ; RCV001010370 ; RCV004535752
• dbSNP Id: rs1565973352
• MyVariant Identifiers: chr12:g.133250263C>T (hg19) ; chr12:g.132673677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673677C>T , CM000674.2:g.132673677C>T	GRCh38
NC_000012.11:g.133250263C>T , CM000674.1:g.133250263C>T	GRCh37
NC_000012.10:g.131760336C>T	NCBI36
NG_033840.1:g.18848G>A , LRG_789:g.18848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.1284G>A
ENST00000699982.1:c.1111G>A
ENST00000699983.1:c.1111G>A
ENST00000699984.1:c.1111G>A
ENST00000320574.10:c.1257G>A MANE Select	ENSP00000322570.5:p.Val419=
ENST00000672742.1:c.*759G>A	ENSP00000500279.1:n.*759G>A
ENST00000320574.9:c.1257G>A	ENSP00000322570.5:p.Val419=
ENST00000535270.5:c.1176G>A	ENSP00000445753.1:p.Val392=
ENST00000535934.2:n.1132G>A
ENST00000537064.5:c.*304G>A	ENSP00000442578.1:n.*304G>A
NM_006231.3:c.1257G>A , LRG_789t1:c.1257G>A	NP_006222.2:p.Val419=
XM_011534795.1:c.1257G>A	XP_011533097.1:p.Val419=
XM_011534796.1:c.1128G>A	XP_011533098.1:p.Val376=
XM_011534797.1:c.336G>A	XP_011533099.1:p.Val112=
XM_011534799.1:c.1257G>A	XP_011533101.1:p.Val419=
XM_011534800.1:c.1257G>A	XP_011533102.1:p.Val419=
XM_011534801.1:c.1257G>A	XP_011533103.1:p.Val419=
XR_941395.1:n.1466G>A
XM_011534795.3:c.1257G>A	XP_011533097.1:p.Val419=
XM_011534797.3:c.336G>A	XP_011533099.1:p.Val112=
XM_011534799.2:c.1257G>A	XP_011533101.1:p.Val419=
XR_002957338.1:n.1461G>A
XR_002957339.1:n.1461G>A
XR_941395.2:n.1461G>A
NM_006231.4:c.1257G>A MANE Select	NP_006222.2:p.Val419=