Canonical Allele Identifier: CA6892298

Gene: POLE

Linked Data

• ClinVar Variation Id: 405805
• ClinVar RCV Id: RCV002481394 ; RCV003654330
• dbSNP Id: rs115452769
• ExAC: 12:133209337 G / A
• gnomAD v2: 12-133209337-G-A
• gnomAD v3: 12-132632751-G-A
• gnomAD v4: 12-132632751-G-A
• MyVariant Identifiers: chr12:g.133209337G>A (hg19) ; chr12:g.132632751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132632751G>A , CM000674.2:g.132632751G>A	GRCh38
NC_000012.11:g.133209337G>A , CM000674.1:g.133209337G>A	GRCh37
NC_000012.10:g.131719410G>A	NCBI36
NG_033840.1:g.59774C>T , LRG_789:g.59774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.1587C>T	ENSP00000500921.1:n.1587C>T
ENST00000544870.6:c.3722C>T	ENSP00000479927.2:n.3722C>T
ENST00000699981.1:n.3703C>T
ENST00000699982.1:c.5903C>T
ENST00000699983.1:c.6607C>T
ENST00000699984.1:c.5903C>T
ENST00000320574.10:c.6049C>T MANE Select	ENSP00000322570.5:p.Arg2017Cys
ENST00000434528.4:c.1587C>T	ENSP00000500921.1:n.1587C>T
ENST00000672002.1:c.3722C>T	ENSP00000500233.1:n.3722C>T
ENST00000672742.1:c.*6255C>T	ENSP00000500279.1:n.*6255C>T
ENST00000320574.9:c.6049C>T	ENSP00000322570.5:p.Arg2017Cys
ENST00000441786.3:c.339C>T
ENST00000535270.5:c.5968C>T	ENSP00000445753.1:p.Arg1990Cys
ENST00000537064.5:c.*5800C>T	ENSP00000442578.1:n.*5800C>T
ENST00000541213.5:n.1527C>T
ENST00000544414.1:n.332C>T
ENST00000544692.5:n.1418C>T
ENST00000544870.5:c.347C>T
NM_006231.3:c.6049C>T , LRG_789t1:c.6049C>T	NP_006222.2:p.Arg2017Cys
XM_011534795.1:c.6049C>T	XP_011533097.1:p.Arg2017Cys
XM_011534796.1:c.5920C>T	XP_011533098.1:p.Arg1974Cys
XM_011534797.1:c.5128C>T	XP_011533099.1:p.Arg1710Cys
XM_011534798.1:c.4711C>T	XP_011533100.1:p.Arg1571Cys
XM_011534802.1:c.3037C>T	XP_011533104.1:p.Arg1013Cys
XM_011534795.3:c.6049C>T	XP_011533097.1:p.Arg2017Cys
XM_011534797.3:c.5128C>T	XP_011533099.1:p.Arg1710Cys
XM_011534802.3:c.3037C>T	XP_011533104.1:p.Arg1013Cys
XR_002957339.1:n.6595C>T
NM_006231.4:c.6049C>T MANE Select	NP_006222.2:p.Arg2017Cys