Canonical Allele Identifier: CA387368662

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132680194T>C , CM000674.2:g.132680194T>C	GRCh38
NC_000012.11:g.133256780T>C , CM000674.1:g.133256780T>C	GRCh37
NC_000012.10:g.131766853T>C	NCBI36
NG_033840.1:g.12331A>G , LRG_789:g.12331A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.314A>G MANE Select	NP_006222.2:p.Tyr105Cys
ENST00000320574.10:c.314A>G MANE Select	ENSP00000322570.5:p.Tyr105Cys
NM_006231.3:c.314A>G , LRG_789t1:c.314A>G	NP_006222.2:p.Tyr105Cys
ENST00000320574.9:c.314A>G	ENSP00000322570.5:p.Tyr105Cys
ENST00000535270.5:c.233A>G	ENSP00000445753.1:p.Tyr78Cys
ENST00000537064.5:c.314A>G	ENSP00000442578.1:p.Tyr105Cys
ENST00000545015.2:n.341A>G
ENST00000672742.1:c.314A>G	ENSP00000500279.1:p.Tyr105Cys
ENST00000699982.1:c.160A>G
ENST00000699983.1:c.160A>G
ENST00000699984.1:c.160A>G
ENST00000699985.1:n.375A>G
XM_011534795.1:c.314A>G	XP_011533097.1:p.Tyr105Cys
XM_011534795.3:c.314A>G	XP_011533097.1:p.Tyr105Cys
XM_011534796.1:c.185A>G	XP_011533098.1:p.Tyr62Cys
XM_011534799.1:c.314A>G	XP_011533101.1:p.Tyr105Cys
XM_011534799.2:c.314A>G	XP_011533101.1:p.Tyr105Cys
XM_011534800.1:c.314A>G	XP_011533102.1:p.Tyr105Cys
XM_011534801.1:c.314A>G	XP_011533103.1:p.Tyr105Cys
XR_002957338.1:n.518A>G
XR_002957339.1:n.518A>G
XR_941395.1:n.523A>G
XR_941395.2:n.518A>G