Canonical Allele Identifier: CA387358403

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673217C>A , CM000674.2:g.132673217C>A	GRCh38
NC_000012.11:g.133249803C>A , CM000674.1:g.133249803C>A	GRCh37
NC_000012.10:g.131759876C>A	NCBI36
NG_033840.1:g.19308G>T , LRG_789:g.19308G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.1420G>T MANE Select	NP_006222.2:p.Val474Phe
ENST00000320574.10:c.1420G>T MANE Select	ENSP00000322570.5:p.Val474Phe
NM_006231.3:c.1420G>T , LRG_789t1:c.1420G>T	NP_006222.2:p.Val474Phe
ENST00000320574.9:c.1420G>T	ENSP00000322570.5:p.Val474Phe
ENST00000535270.5:c.1339G>T	ENSP00000445753.1:p.Val447Phe
ENST00000535934.2:n.1295G>T
ENST00000537064.5:c.*467G>T	ENSP00000442578.1:n.*467G>T
ENST00000539215.5:n.128G>T
ENST00000539215.6:c.128G>T
ENST00000545015.1:n.17G>T
ENST00000545015.2:n.1447G>T
ENST00000672742.1:c.*922G>T	ENSP00000500279.1:n.*922G>T
ENST00000699982.1:c.1274G>T
ENST00000699983.1:c.1274G>T
ENST00000699984.1:c.1274G>T
XM_011534795.1:c.1420G>T	XP_011533097.1:p.Val474Phe
XM_011534795.3:c.1420G>T	XP_011533097.1:p.Val474Phe
XM_011534796.1:c.1291G>T	XP_011533098.1:p.Val431Phe
XM_011534797.1:c.499G>T	XP_011533099.1:p.Val167Phe
XM_011534797.3:c.499G>T	XP_011533099.1:p.Val167Phe
XM_011534798.1:c.82G>T	XP_011533100.1:p.Val28Phe
XM_011534799.1:c.1420G>T	XP_011533101.1:p.Val474Phe
XM_011534799.2:c.1420G>T	XP_011533101.1:p.Val474Phe
XM_011534800.1:c.1420G>T	XP_011533102.1:p.Val474Phe
XM_011534801.1:c.1420G>T	XP_011533103.1:p.Val474Phe
XR_002957338.1:n.1624G>T
XR_002957339.1:n.1624G>T
XR_941395.1:n.1629G>T
XR_941395.2:n.1624G>T