Canonical Allele Identifier: CA387370192

Gene: POLE

Linked Data

• ClinVar Variation Id: 540694
• ClinVar RCV Id: RCV000768286 ; RCV000760030 ; RCV003224368
• dbSNP Id: rs1462887616
• gnomAD v2: 12-133209250-C-T
• gnomAD v4: 12-132632664-C-T
• MyVariant Identifiers: chr12:g.133209250C>T (hg19) ; chr12:g.132632664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132632664C>T , CM000674.2:g.132632664C>T	GRCh38
NC_000012.11:g.133209250C>T , CM000674.1:g.133209250C>T	GRCh37
NC_000012.10:g.131719323C>T	NCBI36
NG_033840.1:g.59861G>A , LRG_789:g.59861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.1674G>A	ENSP00000500921.1:n.1674G>A
ENST00000544870.6:c.3809G>A	ENSP00000479927.2:n.3809G>A
ENST00000699981.1:n.3790G>A
ENST00000699982.1:c.5990G>A
ENST00000699983.1:c.6694G>A
ENST00000699984.1:c.5990G>A
ENST00000320574.10:c.6136G>A MANE Select	ENSP00000322570.5:p.Gly2046Arg
ENST00000434528.4:c.1674G>A	ENSP00000500921.1:n.1674G>A
ENST00000672002.1:c.3809G>A	ENSP00000500233.1:n.3809G>A
ENST00000672742.1:c.*6342G>A	ENSP00000500279.1:n.*6342G>A
ENST00000320574.9:c.6136G>A	ENSP00000322570.5:p.Gly2046Arg
ENST00000441786.3:c.426G>A
ENST00000535270.5:c.6055G>A	ENSP00000445753.1:p.Gly2019Arg
ENST00000537064.5:c.*5887G>A	ENSP00000442578.1:n.*5887G>A
ENST00000541213.5:n.1614G>A
ENST00000544414.1:n.419G>A
ENST00000544692.5:n.1505G>A
ENST00000544870.5:c.434G>A
NM_006231.3:c.6136G>A , LRG_789t1:c.6136G>A	NP_006222.2:p.Gly2046Arg
XM_011534795.1:c.6136G>A	XP_011533097.1:p.Gly2046Arg
XM_011534796.1:c.6007G>A	XP_011533098.1:p.Gly2003Arg
XM_011534797.1:c.5215G>A	XP_011533099.1:p.Gly1739Arg
XM_011534798.1:c.4798G>A	XP_011533100.1:p.Gly1600Arg
XM_011534802.1:c.3124G>A	XP_011533104.1:p.Gly1042Arg
XM_011534795.3:c.6136G>A	XP_011533097.1:p.Gly2046Arg
XM_011534797.3:c.5215G>A	XP_011533099.1:p.Gly1739Arg
XM_011534802.3:c.3124G>A	XP_011533104.1:p.Gly1042Arg
XR_002957339.1:n.6682G>A
NM_006231.4:c.6136G>A MANE Select	NP_006222.2:p.Gly2046Arg