Canonical Allele Identifier: CA6894400

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132680640G>A , CM000674.2:g.132680640G>A	GRCh38
NC_000012.11:g.133257226G>A , CM000674.1:g.133257226G>A	GRCh37
NC_000012.10:g.131767299G>A	NCBI36
NG_033840.1:g.11885C>T , LRG_789:g.11885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.279C>T
ENST00000699982.1:c.98C>T
ENST00000699983.1:c.98C>T
ENST00000699984.1:c.98C>T
ENST00000699985.1:n.313C>T
ENST00000320574.10:c.252C>T MANE Select	ENSP00000322570.5:p.Tyr84=
ENST00000672742.1:c.252C>T	ENSP00000500279.1:p.Tyr84=
ENST00000320574.9:c.252C>T	ENSP00000322570.5:p.Tyr84=
ENST00000535270.5:c.205-418C>T	ENSP00000445753.1:n.205-418C>T
ENST00000537064.5:c.252C>T	ENSP00000442578.1:p.Tyr84=
ENST00000539618.1:n.190C>T
NM_006231.3:c.252C>T , LRG_789t1:c.252C>T	NP_006222.2:p.Tyr84=
XM_011534795.1:c.252C>T	XP_011533097.1:p.Tyr84=
XM_011534796.1:c.123C>T	XP_011533098.1:p.Tyr41=
XM_011534799.1:c.252C>T	XP_011533101.1:p.Tyr84=
XM_011534800.1:c.252C>T	XP_011533102.1:p.Tyr84=
XM_011534801.1:c.252C>T	XP_011533103.1:p.Tyr84=
XR_941395.1:n.461C>T
XM_011534795.3:c.252C>T	XP_011533097.1:p.Tyr84=
XM_011534799.2:c.252C>T	XP_011533101.1:p.Tyr84=
XR_002957338.1:n.456C>T
XR_002957339.1:n.456C>T
XR_941395.2:n.456C>T
NM_006231.4:c.252C>T MANE Select	NP_006222.2:p.Tyr84=