Canonical Allele Identifier: CA387359610

Gene: POLE

Linked Data

• dbSNP Id: rs2136000448
• gnomAD v4: 12-132673676-C-G
• MyVariant Identifiers: chr12:g.133250262C>G (hg19) ; chr12:g.132673676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673676C>G , CM000674.2:g.132673676C>G	GRCh38
NC_000012.11:g.133250262C>G , CM000674.1:g.133250262C>G	GRCh37
NC_000012.10:g.131760335C>G	NCBI36
NG_033840.1:g.18849G>C , LRG_789:g.18849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.1285G>C
ENST00000699982.1:c.1112G>C
ENST00000699983.1:c.1112G>C
ENST00000699984.1:c.1112G>C
ENST00000320574.10:c.1258G>C MANE Select	ENSP00000322570.5:p.Gly420Arg
ENST00000672742.1:c.*760G>C	ENSP00000500279.1:n.*760G>C
ENST00000320574.9:c.1258G>C	ENSP00000322570.5:p.Gly420Arg
ENST00000535270.5:c.1177G>C	ENSP00000445753.1:p.Gly393Arg
ENST00000535934.2:n.1133G>C
ENST00000537064.5:c.*305G>C	ENSP00000442578.1:n.*305G>C
NM_006231.3:c.1258G>C , LRG_789t1:c.1258G>C	NP_006222.2:p.Gly420Arg
XM_011534795.1:c.1258G>C	XP_011533097.1:p.Gly420Arg
XM_011534796.1:c.1129G>C	XP_011533098.1:p.Gly377Arg
XM_011534797.1:c.337G>C	XP_011533099.1:p.Gly113Arg
XM_011534799.1:c.1258G>C	XP_011533101.1:p.Gly420Arg
XM_011534800.1:c.1258G>C	XP_011533102.1:p.Gly420Arg
XM_011534801.1:c.1258G>C	XP_011533103.1:p.Gly420Arg
XR_941395.1:n.1467G>C
XM_011534795.3:c.1258G>C	XP_011533097.1:p.Gly420Arg
XM_011534797.3:c.337G>C	XP_011533099.1:p.Gly113Arg
XM_011534799.2:c.1258G>C	XP_011533101.1:p.Gly420Arg
XR_002957338.1:n.1462G>C
XR_002957339.1:n.1462G>C
XR_941395.2:n.1462G>C
NM_006231.4:c.1258G>C MANE Select	NP_006222.2:p.Gly420Arg