Canonical Allele Identifier: CA482722693

Gene: POLE

Linked Data

• gnomAD v4: 12-132673239-A-G
• MyVariant Identifiers: chr12:g.133249825A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673239A>G , CM000674.2:g.132673239A>G	GRCh38
NC_000012.11:g.133249825A>G , CM000674.1:g.133249825A>G	GRCh37
NC_000012.10:g.131759898A>G	NCBI36
NG_033840.1:g.19286T>C , LRG_789:g.19286T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.106T>C
ENST00000545015.2:n.1425T>C
ENST00000699982.1:c.1252T>C
ENST00000699983.1:c.1252T>C
ENST00000699984.1:c.1252T>C
ENST00000320574.10:c.1398T>C MANE Select	ENSP00000322570.5:p.Thr466=
ENST00000672742.1:c.*900T>C	ENSP00000500279.1:n.*900T>C
ENST00000320574.9:c.1398T>C	ENSP00000322570.5:p.Thr466=
ENST00000535270.5:c.1317T>C	ENSP00000445753.1:p.Thr439=
ENST00000535934.2:n.1273T>C
ENST00000537064.5:c.*445T>C	ENSP00000442578.1:n.*445T>C
ENST00000539215.5:n.106T>C
NM_006231.3:c.1398T>C , LRG_789t1:c.1398T>C	NP_006222.2:p.Thr466=
XM_011534795.1:c.1398T>C	XP_011533097.1:p.Thr466=
XM_011534796.1:c.1269T>C	XP_011533098.1:p.Thr423=
XM_011534797.1:c.477T>C	XP_011533099.1:p.Thr159=
XM_011534798.1:c.60T>C	XP_011533100.1:p.Thr20=
XM_011534799.1:c.1398T>C	XP_011533101.1:p.Thr466=
XM_011534800.1:c.1398T>C	XP_011533102.1:p.Thr466=
XM_011534801.1:c.1398T>C	XP_011533103.1:p.Thr466=
XR_941395.1:n.1607T>C
XM_011534795.3:c.1398T>C	XP_011533097.1:p.Thr466=
XM_011534797.3:c.477T>C	XP_011533099.1:p.Thr159=
XM_011534799.2:c.1398T>C	XP_011533101.1:p.Thr466=
XR_002957338.1:n.1602T>C
XR_002957339.1:n.1602T>C
XR_941395.2:n.1602T>C
NM_006231.4:c.1398T>C MANE Select	NP_006222.2:p.Thr466=