Canonical Allele Identifier: CA482849560

Gene: POLE

Linked Data

• dbSNP Id: rs2135990532
• gnomAD v4: 12-132672257-T-C
• MyVariant Identifiers: chr12:g.133248843T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672257T>C , CM000674.2:g.132672257T>C	GRCh38
NC_000012.11:g.133248843T>C , CM000674.1:g.133248843T>C	GRCh37
NC_000012.10:g.131758916T>C	NCBI36
NG_033840.1:g.20268A>G , LRG_789:g.20268A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.507A>G
ENST00000699982.1:c.1606A>G
ENST00000699983.1:c.1606A>G
ENST00000699984.1:c.1606A>G
ENST00000320574.10:c.1752A>G MANE Select	ENSP00000322570.5:p.Glu584=
ENST00000672742.1:c.*1254A>G	ENSP00000500279.1:n.*1254A>G
ENST00000320574.9:c.1752A>G	ENSP00000322570.5:p.Glu584=
ENST00000535270.5:c.1671A>G	ENSP00000445753.1:p.Glu557=
ENST00000537064.5:c.*799A>G	ENSP00000442578.1:n.*799A>G
NM_006231.3:c.1752A>G , LRG_789t1:c.1752A>G	NP_006222.2:p.Glu584=
XM_011534795.1:c.1752A>G	XP_011533097.1:p.Glu584=
XM_011534796.1:c.1623A>G	XP_011533098.1:p.Glu541=
XM_011534797.1:c.831A>G	XP_011533099.1:p.Glu277=
XM_011534798.1:c.414A>G	XP_011533100.1:p.Glu138=
XM_011534799.1:c.1752A>G	XP_011533101.1:p.Glu584=
XM_011534800.1:c.1752A>G	XP_011533102.1:p.Glu584=
XM_011534801.1:c.1752A>G	XP_011533103.1:p.Glu584=
XR_941395.1:n.1961A>G
XM_011534795.3:c.1752A>G	XP_011533097.1:p.Glu584=
XM_011534797.3:c.831A>G	XP_011533099.1:p.Glu277=
XM_011534799.2:c.1752A>G	XP_011533101.1:p.Glu584=
XR_002957338.1:n.1956A>G
XR_002957339.1:n.1956A>G
XR_941395.2:n.1956A>G
NM_006231.4:c.1752A>G MANE Select	NP_006222.2:p.Glu584=