Canonical Allele Identifier: CA387356372

Gene: POLE

Linked Data

• dbSNP Id: rs2135990979
• MyVariant Identifiers: chr12:g.133248881G>C (hg19) ; chr12:g.132672295G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672295G>C , CM000674.2:g.132672295G>C	GRCh38
NC_000012.11:g.133248881G>C , CM000674.1:g.133248881G>C	GRCh37
NC_000012.10:g.131758954G>C	NCBI36
NG_033840.1:g.20230C>G , LRG_789:g.20230C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.469C>G
ENST00000699982.1:c.1568C>G
ENST00000699983.1:c.1568C>G
ENST00000699984.1:c.1568C>G
ENST00000320574.10:c.1714C>G MANE Select	ENSP00000322570.5:p.Gln572Glu
ENST00000672742.1:c.*1216C>G	ENSP00000500279.1:n.*1216C>G
ENST00000320574.9:c.1714C>G	ENSP00000322570.5:p.Gln572Glu
ENST00000535270.5:c.1633C>G	ENSP00000445753.1:p.Gln545Glu
ENST00000537064.5:c.*761C>G	ENSP00000442578.1:n.*761C>G
ENST00000539215.5:n.469C>G
NM_006231.3:c.1714C>G , LRG_789t1:c.1714C>G	NP_006222.2:p.Gln572Glu
XM_011534795.1:c.1714C>G	XP_011533097.1:p.Gln572Glu
XM_011534796.1:c.1585C>G	XP_011533098.1:p.Gln529Glu
XM_011534797.1:c.793C>G	XP_011533099.1:p.Gln265Glu
XM_011534798.1:c.376C>G	XP_011533100.1:p.Gln126Glu
XM_011534799.1:c.1714C>G	XP_011533101.1:p.Gln572Glu
XM_011534800.1:c.1714C>G	XP_011533102.1:p.Gln572Glu
XM_011534801.1:c.1714C>G	XP_011533103.1:p.Gln572Glu
XR_941395.1:n.1923C>G
XM_011534795.3:c.1714C>G	XP_011533097.1:p.Gln572Glu
XM_011534797.3:c.793C>G	XP_011533099.1:p.Gln265Glu
XM_011534799.2:c.1714C>G	XP_011533101.1:p.Gln572Glu
XR_002957338.1:n.1918C>G
XR_002957339.1:n.1918C>G
XR_941395.2:n.1918C>G
NM_006231.4:c.1714C>G MANE Select	NP_006222.2:p.Gln572Glu