Canonical Allele Identifier: CA6892177

Gene: POLE

Linked Data

• ClinVar Variation Id: 405704
• ClinVar RCV Id: RCV000476996 ; RCV000709240 ; RCV000765044 ; RCV000995008 ; RCV003151773 ; RCV003321601
• dbSNP Id: rs771490182
• ExAC: 12:133202789 G / A
• gnomAD v2: 12-133202789-G-A
• gnomAD v3: 12-132626203-G-A
• gnomAD v4: 12-132626203-G-A
• MyVariant Identifiers: chr12:g.133202789G>A (hg19) ; chr12:g.132626203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132626203G>A , CM000674.2:g.132626203G>A	GRCh38
NC_000012.11:g.133202789G>A , CM000674.1:g.133202789G>A	GRCh37
NC_000012.10:g.131712862G>A	NCBI36
NG_033840.1:g.66322C>T , LRG_789:g.66322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.1983C>T	ENSP00000500921.1:n.1983C>T
ENST00000534922.6:n.358C>T
ENST00000544870.6:c.4098C>T	ENSP00000479927.2:n.4098C>T
ENST00000699981.1:n.4099C>T
ENST00000699982.1:c.6299C>T
ENST00000699983.1:c.7003C>T
ENST00000699984.1:c.6231C>T
ENST00000320574.10:c.6445C>T MANE Select	ENSP00000322570.5:p.Arg2149Cys
ENST00000434528.4:c.1983C>T	ENSP00000500921.1:n.1983C>T
ENST00000672002.1:c.4118C>T	ENSP00000500233.1:n.4118C>T
ENST00000672742.1:c.*6651C>T	ENSP00000500279.1:n.*6651C>T
ENST00000320574.9:c.6445C>T	ENSP00000322570.5:p.Arg2149Cys
ENST00000534922.5:n.358C>T
ENST00000535270.5:c.6364C>T	ENSP00000445753.1:p.Arg2122Cys
ENST00000537064.5:c.*6196C>T	ENSP00000442578.1:n.*6196C>T
ENST00000538196.1:n.217C>T
ENST00000544692.5:n.1814C>T
NM_006231.3:c.6445C>T , LRG_789t1:c.6445C>T	NP_006222.2:p.Arg2149Cys
XM_011534795.1:c.6445C>T	XP_011533097.1:p.Arg2149Cys
XM_011534796.1:c.6316C>T	XP_011533098.1:p.Arg2106Cys
XM_011534797.1:c.5524C>T	XP_011533099.1:p.Arg1842Cys
XM_011534798.1:c.5107C>T	XP_011533100.1:p.Arg1703Cys
XM_011534802.1:c.3433C>T	XP_011533104.1:p.Arg1145Cys
XM_011534795.3:c.6445C>T	XP_011533097.1:p.Arg2149Cys
XM_011534797.3:c.5524C>T	XP_011533099.1:p.Arg1842Cys
XM_011534802.3:c.3433C>T	XP_011533104.1:p.Arg1145Cys
XR_002957339.1:n.6991C>T
NM_006231.4:c.6445C>T MANE Select	NP_006222.2:p.Arg2149Cys