Canonical Allele Identifier: CA387388337

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132657152A>T , CM000674.2:g.132657152A>T	GRCh38
NC_000012.11:g.133233738A>T , CM000674.1:g.133233738A>T	GRCh37
NC_000012.10:g.131743811A>T	NCBI36
NG_033840.1:g.35373T>A , LRG_789:g.35373T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.3566T>A MANE Select	NP_006222.2:p.Leu1189Gln
ENST00000320574.10:c.3566T>A MANE Select	ENSP00000322570.5:p.Leu1189Gln
NM_006231.3:c.3566T>A , LRG_789t1:c.3566T>A	NP_006222.2:p.Leu1189Gln
ENST00000320574.9:c.3566T>A	ENSP00000322570.5:p.Leu1189Gln
ENST00000416953.3:n.1189T>A
ENST00000535270.5:c.3485T>A	ENSP00000445753.1:p.Leu1162Gln
ENST00000536445.5:n.1910T>A
ENST00000537064.5:c.*3317T>A	ENSP00000442578.1:n.*3317T>A
ENST00000544870.6:c.1239T>A	ENSP00000479927.2:n.1239T>A
ENST00000672002.1:c.1239T>A	ENSP00000500233.1:n.1239T>A
ENST00000672742.1:c.*3772T>A	ENSP00000500279.1:n.*3772T>A
ENST00000699981.1:n.1220T>A
ENST00000699982.1:c.3420T>A
ENST00000699983.1:c.4124T>A
ENST00000699984.1:c.3420T>A
XM_011534795.1:c.3566T>A	XP_011533097.1:p.Leu1189Gln
XM_011534795.3:c.3566T>A	XP_011533097.1:p.Leu1189Gln
XM_011534796.1:c.3437T>A	XP_011533098.1:p.Leu1146Gln
XM_011534797.1:c.2645T>A	XP_011533099.1:p.Leu882Gln
XM_011534797.3:c.2645T>A	XP_011533099.1:p.Leu882Gln
XM_011534798.1:c.2228T>A	XP_011533100.1:p.Leu743Gln
XM_011534799.1:c.3566T>A	XP_011533101.1:p.Leu1189Gln
XM_011534799.2:c.3566T>A	XP_011533101.1:p.Leu1189Gln
XM_011534800.1:c.3566T>A	XP_011533102.1:p.Leu1189Gln
XM_011534801.1:c.3566T>A	XP_011533103.1:p.Leu1189Gln
XM_011534802.1:c.554T>A	XP_011533104.1:p.Leu185Gln
XM_011534802.3:c.554T>A	XP_011533104.1:p.Leu185Gln
XR_002957338.1:n.3770T>A
XR_002957339.1:n.3770T>A
XR_941395.1:n.3775T>A
XR_941395.2:n.3770T>A