Canonical Allele Identifier: CA482722654

Gene: POLE

Linked Data

• ClinVar Variation Id: 1773275
• ClinVar RCV Id: RCV002396849
• dbSNP Id: rs995585765
• gnomAD v4: 12-132673170-G-T
• MyVariant Identifiers: chr12:g.133249756G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673170G>T , CM000674.2:g.132673170G>T	GRCh38
NC_000012.11:g.133249756G>T , CM000674.1:g.133249756G>T	GRCh37
NC_000012.10:g.131759829G>T	NCBI36
NG_033840.1:g.19355C>A , LRG_789:g.19355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.175C>A
ENST00000545015.2:n.1494C>A
ENST00000699982.1:c.1321C>A
ENST00000699983.1:c.1321C>A
ENST00000699984.1:c.1321C>A
ENST00000320574.10:c.1467C>A MANE Select	ENSP00000322570.5:p.Pro489=
ENST00000672742.1:c.*969C>A	ENSP00000500279.1:n.*969C>A
ENST00000320574.9:c.1467C>A	ENSP00000322570.5:p.Pro489=
ENST00000535270.5:c.1386C>A	ENSP00000445753.1:p.Pro462=
ENST00000535934.2:n.1342C>A
ENST00000537064.5:c.*514C>A	ENSP00000442578.1:n.*514C>A
ENST00000539215.5:n.175C>A
ENST00000545015.1:n.64C>A
NM_006231.3:c.1467C>A , LRG_789t1:c.1467C>A	NP_006222.2:p.Pro489=
XM_011534795.1:c.1467C>A	XP_011533097.1:p.Pro489=
XM_011534796.1:c.1338C>A	XP_011533098.1:p.Pro446=
XM_011534797.1:c.546C>A	XP_011533099.1:p.Pro182=
XM_011534798.1:c.129C>A	XP_011533100.1:p.Pro43=
XM_011534799.1:c.1467C>A	XP_011533101.1:p.Pro489=
XM_011534800.1:c.1467C>A	XP_011533102.1:p.Pro489=
XM_011534801.1:c.1467C>A	XP_011533103.1:p.Pro489=
XR_941395.1:n.1676C>A
XM_011534795.3:c.1467C>A	XP_011533097.1:p.Pro489=
XM_011534797.3:c.546C>A	XP_011533099.1:p.Pro182=
XM_011534799.2:c.1467C>A	XP_011533101.1:p.Pro489=
XR_002957338.1:n.1671C>A
XR_002957339.1:n.1671C>A
XR_941395.2:n.1671C>A
NM_006231.4:c.1467C>A MANE Select	NP_006222.2:p.Pro489=