Canonical Allele Identifier: CA2073001072

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672240A= , CM000674.2:g.132672240A=	GRCh38
NC_000012.11:g.133248826A= , CM000674.1:g.133248826A=	GRCh37
NC_000012.10:g.131758899A=	NCBI36
NG_033840.1:g.20285T= , LRG_789:g.20285T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.524T=
ENST00000699982.1:c.1623T=
ENST00000699983.1:c.1623T=
ENST00000699984.1:c.1623T=
ENST00000320574.10:c.1769T= MANE Select	ENSP00000322570.5:p.Val590=
ENST00000672742.1:c.*1271T=	ENSP00000500279.1:n.*1271T=
ENST00000320574.9:c.1769T=	ENSP00000322570.5:p.Val590=
ENST00000535270.5:c.1688T=	ENSP00000445753.1:p.Val563=
ENST00000537064.5:c.*816T=	ENSP00000442578.1:n.*816T=
NM_006231.3:c.1769T= , LRG_789t1:c.1769T=	NP_006222.2:p.Val590=
XM_011534795.1:c.1769T=	XP_011533097.1:p.Val590=
XM_011534796.1:c.1640T=	XP_011533098.1:p.Val547=
XM_011534797.1:c.848T=	XP_011533099.1:p.Val283=
XM_011534798.1:c.431T=	XP_011533100.1:p.Val144=
XM_011534799.1:c.1769T=	XP_011533101.1:p.Val590=
XM_011534800.1:c.1769T=	XP_011533102.1:p.Val590=
XM_011534801.1:c.1769T=	XP_011533103.1:p.Val590=
XR_941395.1:n.1978T=
XM_011534795.3:c.1769T=	XP_011533097.1:p.Val590=
XM_011534797.3:c.848T=	XP_011533099.1:p.Val283=
XM_011534799.2:c.1769T=	XP_011533101.1:p.Val590=
XR_002957338.1:n.1973T=
XR_002957339.1:n.1973T=
XR_941395.2:n.1973T=
NM_006231.4:c.1769T= MANE Select	NP_006222.2:p.Val590=