Canonical Allele Identifier: CA6893188

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132657119T>C , CM000674.2:g.132657119T>C	GRCh38
NC_000012.11:g.133233705T>C , CM000674.1:g.133233705T>C	GRCh37
NC_000012.10:g.131743778T>C	NCBI36
NG_033840.1:g.35406A>G , LRG_789:g.35406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.1205+17A>G
ENST00000544870.6:c.1255+17A>G	ENSP00000479927.2:n.1255+17A>G
ENST00000699981.1:n.1236+17A>G
ENST00000699982.1:c.3436+17A>G
ENST00000699983.1:c.4140+17A>G
ENST00000699984.1:c.3436+17A>G
ENST00000320574.10:c.3582+17A>G MANE Select	ENSP00000322570.5:n.3582+17A>G
ENST00000672002.1:c.1255+17A>G	ENSP00000500233.1:n.1255+17A>G
ENST00000672742.1:c.*3788+17A>G	ENSP00000500279.1:n.*3788+17A>G
ENST00000320574.9:c.3582+17A>G	ENSP00000322570.5:n.3582+17A>G
ENST00000535270.5:c.3501+17A>G	ENSP00000445753.1:n.3501+17A>G
ENST00000536445.5:n.1926+17A>G
ENST00000537064.5:c.*3333+17A>G	ENSP00000442578.1:n.*3333+17A>G
NM_006231.3:c.3582+17A>G , LRG_789t1:c.3582+17A>G	NP_006222.2:n.3582+17A>G
XM_011534795.1:c.3582+17A>G	XP_011533097.1:n.3582+17A>G
XM_011534796.1:c.3453+17A>G	XP_011533098.1:n.3453+17A>G
XM_011534797.1:c.2661+17A>G	XP_011533099.1:n.2661+17A>G
XM_011534798.1:c.2244+17A>G	XP_011533100.1:n.2244+17A>G
XM_011534799.1:c.3582+17A>G	XP_011533101.1:n.3582+17A>G
XM_011534800.1:c.3582+17A>G	XP_011533102.1:n.3582+17A>G
XM_011534801.1:c.3582+17A>G	XP_011533103.1:n.3582+17A>G
XM_011534802.1:c.570+17A>G	XP_011533104.1:n.570+17A>G
XR_941395.1:n.3791+17A>G
XM_011534795.3:c.3582+17A>G	XP_011533097.1:n.3582+17A>G
XM_011534797.3:c.2661+17A>G	XP_011533099.1:n.2661+17A>G
XM_011534799.2:c.3582+17A>G	XP_011533101.1:n.3582+17A>G
XM_011534802.3:c.570+17A>G	XP_011533104.1:n.570+17A>G
XR_002957338.1:n.3786+17A>G
XR_002957339.1:n.3786+17A>G
XR_941395.2:n.3786+17A>G
NM_006231.4:c.3582+17A>G MANE Select	NP_006222.2:n.3582+17A>G