Canonical Allele Identifier: CA387356326

Gene: POLE

Linked Data

• ClinVar Variation Id: 1721666
• ClinVar RCV Id: RCV003658060
• dbSNP Id: rs149296223
• MyVariant Identifiers: chr12:g.133248859C>A (hg19) ; chr12:g.132672273C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672273C>A , CM000674.2:g.132672273C>A	GRCh38
NC_000012.11:g.133248859C>A , CM000674.1:g.133248859C>A	GRCh37
NC_000012.10:g.131758932C>A	NCBI36
NG_033840.1:g.20252G>T , LRG_789:g.20252G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.491G>T
ENST00000699982.1:c.1590G>T
ENST00000699983.1:c.1590G>T
ENST00000699984.1:c.1590G>T
ENST00000320574.10:c.1736G>T MANE Select	ENSP00000322570.5:p.Arg579Leu
ENST00000672742.1:c.*1238G>T	ENSP00000500279.1:n.*1238G>T
ENST00000320574.9:c.1736G>T	ENSP00000322570.5:p.Arg579Leu
ENST00000535270.5:c.1655G>T	ENSP00000445753.1:p.Arg552Leu
ENST00000537064.5:c.*783G>T	ENSP00000442578.1:n.*783G>T
NM_006231.3:c.1736G>T , LRG_789t1:c.1736G>T	NP_006222.2:p.Arg579Leu
XM_011534795.1:c.1736G>T	XP_011533097.1:p.Arg579Leu
XM_011534796.1:c.1607G>T	XP_011533098.1:p.Arg536Leu
XM_011534797.1:c.815G>T	XP_011533099.1:p.Arg272Leu
XM_011534798.1:c.398G>T	XP_011533100.1:p.Arg133Leu
XM_011534799.1:c.1736G>T	XP_011533101.1:p.Arg579Leu
XM_011534800.1:c.1736G>T	XP_011533102.1:p.Arg579Leu
XM_011534801.1:c.1736G>T	XP_011533103.1:p.Arg579Leu
XR_941395.1:n.1945G>T
XM_011534795.3:c.1736G>T	XP_011533097.1:p.Arg579Leu
XM_011534797.3:c.815G>T	XP_011533099.1:p.Arg272Leu
XM_011534799.2:c.1736G>T	XP_011533101.1:p.Arg579Leu
XR_002957338.1:n.1940G>T
XR_002957339.1:n.1940G>T
XR_941395.2:n.1940G>T
NM_006231.4:c.1736G>T MANE Select	NP_006222.2:p.Arg579Leu