Canonical Allele Identifier: CA349635

Gene: POLE

Linked Data

• ClinVar Variation Id: 221105
• ClinVar RCV Id: RCV000237099 ; RCV000561298 ; RCV000679651 ; RCV001080849 ; RCV001357564 ; RCV002485353 ; RCV004529005
• dbSNP Id: rs5744971
• ExAC: 12:133214708 T / C
• gnomAD v2: 12-133214708-T-C
• gnomAD v3: 12-132638122-T-C
• gnomAD v4: 12-132638122-T-C
• MyVariant Identifiers: chr12:g.133214708T>C (hg19) ; chr12:g.132638122T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132638122T>C , CM000674.2:g.132638122T>C	GRCh38
NC_000012.11:g.133214708T>C , CM000674.1:g.133214708T>C	GRCh37
NC_000012.10:g.131724781T>C	NCBI36
NG_033840.1:g.54403A>G , LRG_789:g.54403A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3740A>G
ENST00000434528.5:c.1108A>G	ENSP00000500921.1:n.1108A>G
ENST00000544870.6:c.3243A>G	ENSP00000479927.2:n.3243A>G
ENST00000699981.1:n.3224A>G
ENST00000699982.1:c.5424A>G
ENST00000699983.1:c.6128A>G
ENST00000699984.1:c.5424A>G
ENST00000320574.10:c.5570A>G MANE Select	ENSP00000322570.5:p.Lys1857Arg
ENST00000434528.4:c.1108A>G	ENSP00000500921.1:n.1108A>G
ENST00000672002.1:c.3243A>G	ENSP00000500233.1:n.3243A>G
ENST00000672742.1:c.*5776A>G	ENSP00000500279.1:n.*5776A>G
ENST00000320574.9:c.5570A>G	ENSP00000322570.5:p.Lys1857Arg
ENST00000434528.3:n.553A>G
ENST00000535270.5:c.5489A>G	ENSP00000445753.1:p.Lys1830Arg
ENST00000537064.5:c.*5321A>G	ENSP00000442578.1:n.*5321A>G
ENST00000541213.5:n.1048A>G
NM_006231.3:c.5570A>G , LRG_789t1:c.5570A>G	NP_006222.2:p.Lys1857Arg
XM_011534795.1:c.5570A>G	XP_011533097.1:p.Lys1857Arg
XM_011534796.1:c.5441A>G	XP_011533098.1:p.Lys1814Arg
XM_011534797.1:c.4649A>G	XP_011533099.1:p.Lys1550Arg
XM_011534798.1:c.4232A>G	XP_011533100.1:p.Lys1411Arg
XM_011534802.1:c.2558A>G	XP_011533104.1:p.Lys853Arg
XM_011534795.3:c.5570A>G	XP_011533097.1:p.Lys1857Arg
XM_011534797.3:c.4649A>G	XP_011533099.1:p.Lys1550Arg
XM_011534802.3:c.2558A>G	XP_011533104.1:p.Lys853Arg
XR_002957338.1:n.6403A>G
XR_002957339.1:n.6116A>G
NM_006231.4:c.5570A>G MANE Select	NP_006222.2:p.Lys1857Arg