Canonical Allele Identifier: CA6893246

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132657434A>G , CM000674.2:g.132657434A>G	GRCh38
NC_000012.11:g.133234020A>G , CM000674.1:g.133234020A>G	GRCh37
NC_000012.10:g.131744093A>G	NCBI36
NG_033840.1:g.35091T>C , LRG_789:g.35091T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.1002-5T>C
ENST00000544870.6:c.1052-5T>C	ENSP00000479927.2:n.1052-5T>C
ENST00000699981.1:n.1033-5T>C
ENST00000699982.1:c.3233-5T>C
ENST00000699983.1:c.3937-5T>C
ENST00000699984.1:c.3233-5T>C
ENST00000320574.10:c.3379-5T>C MANE Select	ENSP00000322570.5:n.3379-5T>C
ENST00000672002.1:c.1052-5T>C	ENSP00000500233.1:n.1052-5T>C
ENST00000672742.1:c.*3585-5T>C	ENSP00000500279.1:n.*3585-5T>C
ENST00000320574.9:c.3379-5T>C	ENSP00000322570.5:n.3379-5T>C
ENST00000535270.5:c.3298-5T>C	ENSP00000445753.1:n.3298-5T>C
ENST00000536445.5:n.1723-5T>C
ENST00000537064.5:c.*3130-5T>C	ENSP00000442578.1:n.*3130-5T>C
NM_006231.3:c.3379-5T>C , LRG_789t1:c.3379-5T>C	NP_006222.2:n.3379-5T>C
XM_011534795.1:c.3379-5T>C	XP_011533097.1:n.3379-5T>C
XM_011534796.1:c.3250-5T>C	XP_011533098.1:n.3250-5T>C
XM_011534797.1:c.2458-5T>C	XP_011533099.1:n.2458-5T>C
XM_011534798.1:c.2041-5T>C	XP_011533100.1:n.2041-5T>C
XM_011534799.1:c.3379-5T>C	XP_011533101.1:n.3379-5T>C
XM_011534800.1:c.3379-5T>C	XP_011533102.1:n.3379-5T>C
XM_011534801.1:c.3379-5T>C	XP_011533103.1:n.3379-5T>C
XM_011534802.1:c.367-5T>C	XP_011533104.1:n.367-5T>C
XR_941395.1:n.3588-5T>C
XM_011534795.3:c.3379-5T>C	XP_011533097.1:n.3379-5T>C
XM_011534797.3:c.2458-5T>C	XP_011533099.1:n.2458-5T>C
XM_011534799.2:c.3379-5T>C	XP_011533101.1:n.3379-5T>C
XM_011534802.3:c.367-5T>C	XP_011533104.1:n.367-5T>C
XR_002957338.1:n.3583-5T>C
XR_002957339.1:n.3583-5T>C
XR_941395.2:n.3583-5T>C
NM_006231.4:c.3379-5T>C MANE Select	NP_006222.2:n.3379-5T>C