Canonical Allele Identifier: CA6892282

Gene: POLE

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132632697G>A , CM000674.2:g.132632697G>A	GRCh38
NC_000012.11:g.133209283G>A , CM000674.1:g.133209283G>A	GRCh37
NC_000012.10:g.131719356G>A	NCBI36
NG_033840.1:g.59828C>T , LRG_789:g.59828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.1641C>T	ENSP00000500921.1:n.1641C>T
ENST00000544870.6:c.3776C>T	ENSP00000479927.2:n.3776C>T
ENST00000699981.1:n.3757C>T
ENST00000699982.1:c.5957C>T
ENST00000699983.1:c.6661C>T
ENST00000699984.1:c.5957C>T
ENST00000320574.10:c.6103C>T MANE Select	ENSP00000322570.5:p.Gln2035Ter
ENST00000434528.4:c.1641C>T	ENSP00000500921.1:n.1641C>T
ENST00000672002.1:c.3776C>T	ENSP00000500233.1:n.3776C>T
ENST00000672742.1:c.*6309C>T	ENSP00000500279.1:n.*6309C>T
ENST00000320574.9:c.6103C>T	ENSP00000322570.5:p.Gln2035Ter
ENST00000441786.3:c.393C>T
ENST00000535270.5:c.6022C>T	ENSP00000445753.1:p.Gln2008Ter
ENST00000537064.5:c.*5854C>T	ENSP00000442578.1:n.*5854C>T
ENST00000541213.5:n.1581C>T
ENST00000544414.1:n.386C>T
ENST00000544692.5:n.1472C>T
ENST00000544870.5:c.401C>T
NM_006231.3:c.6103C>T , LRG_789t1:c.6103C>T	NP_006222.2:p.Gln2035Ter
XM_011534795.1:c.6103C>T	XP_011533097.1:p.Gln2035Ter
XM_011534796.1:c.5974C>T	XP_011533098.1:p.Gln1992Ter
XM_011534797.1:c.5182C>T	XP_011533099.1:p.Gln1728Ter
XM_011534798.1:c.4765C>T	XP_011533100.1:p.Gln1589Ter
XM_011534802.1:c.3091C>T	XP_011533104.1:p.Gln1031Ter
XM_011534795.3:c.6103C>T	XP_011533097.1:p.Gln2035Ter
XM_011534797.3:c.5182C>T	XP_011533099.1:p.Gln1728Ter
XM_011534802.3:c.3091C>T	XP_011533104.1:p.Gln1031Ter
XR_002957339.1:n.6649C>T
NM_006231.4:c.6103C>T MANE Select	NP_006222.2:p.Gln2035Ter