Canonical Allele Identifier: CA16607159

Gene: POLE

Linked Data

• ClinVar Variation Id: 389080
• ClinVar RCV Id: RCV000417745 ; RCV003657874
• dbSNP Id: rs1057523317
• gnomAD v2: 12-133248858-G-A
• gnomAD v4: 12-132672272-G-A
• MyVariant Identifiers: chr12:g.133248858G>A (hg19) ; chr12:g.132672272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672272G>A , CM000674.2:g.132672272G>A	GRCh38
NC_000012.11:g.133248858G>A , CM000674.1:g.133248858G>A	GRCh37
NC_000012.10:g.131758931G>A	NCBI36
NG_033840.1:g.20253C>T , LRG_789:g.20253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.492C>T
ENST00000699982.1:c.1591C>T
ENST00000699983.1:c.1591C>T
ENST00000699984.1:c.1591C>T
ENST00000320574.10:c.1737C>T MANE Select	ENSP00000322570.5:p.Arg579=
ENST00000672742.1:c.*1239C>T	ENSP00000500279.1:n.*1239C>T
ENST00000320574.9:c.1737C>T	ENSP00000322570.5:p.Arg579=
ENST00000535270.5:c.1656C>T	ENSP00000445753.1:p.Arg552=
ENST00000537064.5:c.*784C>T	ENSP00000442578.1:n.*784C>T
NM_006231.3:c.1737C>T , LRG_789t1:c.1737C>T	NP_006222.2:p.Arg579=
XM_011534795.1:c.1737C>T	XP_011533097.1:p.Arg579=
XM_011534796.1:c.1608C>T	XP_011533098.1:p.Arg536=
XM_011534797.1:c.816C>T	XP_011533099.1:p.Arg272=
XM_011534798.1:c.399C>T	XP_011533100.1:p.Arg133=
XM_011534799.1:c.1737C>T	XP_011533101.1:p.Arg579=
XM_011534800.1:c.1737C>T	XP_011533102.1:p.Arg579=
XM_011534801.1:c.1737C>T	XP_011533103.1:p.Arg579=
XR_941395.1:n.1946C>T
XM_011534795.3:c.1737C>T	XP_011533097.1:p.Arg579=
XM_011534797.3:c.816C>T	XP_011533099.1:p.Arg272=
XM_011534799.2:c.1737C>T	XP_011533101.1:p.Arg579=
XR_002957338.1:n.1941C>T
XR_002957339.1:n.1941C>T
XR_941395.2:n.1941C>T
NM_006231.4:c.1737C>T MANE Select	NP_006222.2:p.Arg579=