Canonical Allele Identifier: CA6892513

Gene: POLE

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132639197G>A , CM000674.2:g.132639197G>A	GRCh38
NC_000012.11:g.133215783G>A , CM000674.1:g.133215783G>A	GRCh37
NC_000012.10:g.131725856G>A	NCBI36
NG_033840.1:g.53328C>T , LRG_789:g.53328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3650C>T
ENST00000434528.5:c.1018C>T	ENSP00000500921.1:n.1018C>T
ENST00000544870.6:c.3153C>T	ENSP00000479927.2:n.3153C>T
ENST00000699981.1:n.3134C>T
ENST00000699982.1:c.5334C>T
ENST00000699983.1:c.6038C>T
ENST00000699984.1:c.5334C>T
ENST00000320574.10:c.5480C>T MANE Select	ENSP00000322570.5:p.Ser1827Leu
ENST00000434528.4:c.1018C>T	ENSP00000500921.1:n.1018C>T
ENST00000672002.1:c.3153C>T	ENSP00000500233.1:n.3153C>T
ENST00000672742.1:c.*5686C>T	ENSP00000500279.1:n.*5686C>T
ENST00000320574.9:c.5480C>T	ENSP00000322570.5:p.Ser1827Leu
ENST00000434528.3:n.463C>T
ENST00000535270.5:c.5399C>T	ENSP00000445753.1:p.Ser1800Leu
ENST00000537064.5:c.*5231C>T	ENSP00000442578.1:n.*5231C>T
NM_006231.3:c.5480C>T , LRG_789t1:c.5480C>T	NP_006222.2:p.Ser1827Leu
XM_011534795.1:c.5480C>T	XP_011533097.1:p.Ser1827Leu
XM_011534796.1:c.5351C>T	XP_011533098.1:p.Ser1784Leu
XM_011534797.1:c.4559C>T	XP_011533099.1:p.Ser1520Leu
XM_011534798.1:c.4142C>T	XP_011533100.1:p.Ser1381Leu
XM_011534802.1:c.2468C>T	XP_011533104.1:p.Ser823Leu
XM_011534795.3:c.5480C>T	XP_011533097.1:p.Ser1827Leu
XM_011534797.3:c.4559C>T	XP_011533099.1:p.Ser1520Leu
XM_011534802.3:c.2468C>T	XP_011533104.1:p.Ser823Leu
XR_002957338.1:n.6313C>T
XR_002957339.1:n.6026C>T
XR_941395.2:n.5733C>T
NM_006231.4:c.5480C>T MANE Select	NP_006222.2:p.Ser1827Leu