Canonical Allele Identifier: CA387359534

Gene: POLE

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673664G>T , CM000674.2:g.132673664G>T	GRCh38
NC_000012.11:g.133250250G>T , CM000674.1:g.133250250G>T	GRCh37
NC_000012.10:g.131760323G>T	NCBI36
NG_033840.1:g.18861C>A , LRG_789:g.18861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.1297C>A
ENST00000699982.1:c.1124C>A
ENST00000699983.1:c.1124C>A
ENST00000699984.1:c.1124C>A
ENST00000320574.10:c.1270C>A MANE Select	ENSP00000322570.5:p.Leu424Ile
ENST00000672742.1:c.*772C>A	ENSP00000500279.1:n.*772C>A
ENST00000320574.9:c.1270C>A	ENSP00000322570.5:p.Leu424Ile
ENST00000535270.5:c.1189C>A	ENSP00000445753.1:p.Leu397Ile
ENST00000535934.2:n.1145C>A
ENST00000537064.5:c.*317C>A	ENSP00000442578.1:n.*317C>A
NM_006231.3:c.1270C>A , LRG_789t1:c.1270C>A	NP_006222.2:p.Leu424Ile
XM_011534795.1:c.1270C>A	XP_011533097.1:p.Leu424Ile
XM_011534796.1:c.1141C>A	XP_011533098.1:p.Leu381Ile
XM_011534797.1:c.349C>A	XP_011533099.1:p.Leu117Ile
XM_011534799.1:c.1270C>A	XP_011533101.1:p.Leu424Ile
XM_011534800.1:c.1270C>A	XP_011533102.1:p.Leu424Ile
XM_011534801.1:c.1270C>A	XP_011533103.1:p.Leu424Ile
XR_941395.1:n.1479C>A
XM_011534795.3:c.1270C>A	XP_011533097.1:p.Leu424Ile
XM_011534797.3:c.349C>A	XP_011533099.1:p.Leu117Ile
XM_011534799.2:c.1270C>A	XP_011533101.1:p.Leu424Ile
XR_002957338.1:n.1474C>A
XR_002957339.1:n.1474C>A
XR_941395.2:n.1474C>A
NM_006231.4:c.1270C>A MANE Select	NP_006222.2:p.Leu424Ile