Canonical Allele Identifier: CA6892514

Gene: POLE

Linked Data

• ClinVar Variation Id: 240558
• ClinVar RCV Id: RCV000417656 ; RCV000573268 ; RCV001083742 ; RCV000759307 ; RCV002503912
• dbSNP Id: rs537648186
• ExAC: 12:133215785 C / A
• gnomAD v2: 12-133215785-C-A
• gnomAD v3: 12-132639199-C-A
• gnomAD v4: 12-132639199-C-A
• MyVariant Identifiers: chr12:g.133215785C>A (hg19) ; chr12:g.132639199C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132639199C>A , CM000674.2:g.132639199C>A	GRCh38
NC_000012.11:g.133215785C>A , CM000674.1:g.133215785C>A	GRCh37
NC_000012.10:g.131725858C>A	NCBI36
NG_033840.1:g.53326G>T , LRG_789:g.53326G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3648G>T
ENST00000434528.5:c.1016G>T	ENSP00000500921.1:n.1016G>T
ENST00000544870.6:c.3151G>T	ENSP00000479927.2:n.3151G>T
ENST00000699981.1:n.3132G>T
ENST00000699982.1:c.5332G>T
ENST00000699983.1:c.6036G>T
ENST00000699984.1:c.5332G>T
ENST00000320574.10:c.5478G>T MANE Select	ENSP00000322570.5:p.Arg1826=
ENST00000434528.4:c.1016G>T	ENSP00000500921.1:n.1016G>T
ENST00000672002.1:c.3151G>T	ENSP00000500233.1:n.3151G>T
ENST00000672742.1:c.*5684G>T	ENSP00000500279.1:n.*5684G>T
ENST00000320574.9:c.5478G>T	ENSP00000322570.5:p.Arg1826=
ENST00000434528.3:n.461G>T
ENST00000535270.5:c.5397G>T	ENSP00000445753.1:p.Arg1799=
ENST00000537064.5:c.*5229G>T	ENSP00000442578.1:n.*5229G>T
NM_006231.3:c.5478G>T , LRG_789t1:c.5478G>T	NP_006222.2:p.Arg1826=
XM_011534795.1:c.5478G>T	XP_011533097.1:p.Arg1826=
XM_011534796.1:c.5349G>T	XP_011533098.1:p.Arg1783=
XM_011534797.1:c.4557G>T	XP_011533099.1:p.Arg1519=
XM_011534798.1:c.4140G>T	XP_011533100.1:p.Arg1380=
XM_011534802.1:c.2466G>T	XP_011533104.1:p.Arg822=
XM_011534795.3:c.5478G>T	XP_011533097.1:p.Arg1826=
XM_011534797.3:c.4557G>T	XP_011533099.1:p.Arg1519=
XM_011534802.3:c.2466G>T	XP_011533104.1:p.Arg822=
XR_002957338.1:n.6311G>T
XR_002957339.1:n.6024G>T
XR_941395.2:n.5731G>T
NM_006231.4:c.5478G>T MANE Select	NP_006222.2:p.Arg1826=