Canonical Allele Identifier: CA2580086056

Gene: POLE

Linked Data

• ClinVar Variation Id: 2022773
• ClinVar RCV Id: RCV003658289
• dbSNP Id: rs2135997268

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673293C>A , CM000674.2:g.132673293C>A	GRCh38
NC_000012.11:g.133249879C>A , CM000674.1:g.133249879C>A	GRCh37
NC_000012.10:g.131759952C>A	NCBI36
NG_033840.1:g.19232G>T , LRG_789:g.19232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.68-16G>T
ENST00000545015.2:n.1387-16G>T
ENST00000699982.1:c.1214-16G>T
ENST00000699983.1:c.1214-16G>T
ENST00000699984.1:c.1214-16G>T
ENST00000320574.10:c.1360-16G>T MANE Select	ENSP00000322570.5:n.1360-16G>T
ENST00000672742.1:c.*862-16G>T	ENSP00000500279.1:n.*862-16G>T
ENST00000320574.9:c.1360-16G>T	ENSP00000322570.5:n.1360-16G>T
ENST00000535270.5:c.1279-16G>T	ENSP00000445753.1:n.1279-16G>T
ENST00000535934.2:n.1235-16G>T
ENST00000537064.5:c.*407-16G>T	ENSP00000442578.1:n.*407-16G>T
ENST00000539215.5:n.68-16G>T
NM_006231.3:c.1360-16G>T , LRG_789t1:c.1360-16G>T	NP_006222.2:n.1360-16G>T
XM_011534795.1:c.1360-16G>T	XP_011533097.1:n.1360-16G>T
XM_011534796.1:c.1231-16G>T	XP_011533098.1:n.1231-16G>T
XM_011534797.1:c.439-16G>T	XP_011533099.1:n.439-16G>T
XM_011534798.1:c.22-16G>T	XP_011533100.1:n.22-16G>T
XM_011534799.1:c.1360-16G>T	XP_011533101.1:n.1360-16G>T
XM_011534800.1:c.1360-16G>T	XP_011533102.1:n.1360-16G>T
XM_011534801.1:c.1360-16G>T	XP_011533103.1:n.1360-16G>T
XR_941395.1:n.1569-16G>T
XM_011534795.3:c.1360-16G>T	XP_011533097.1:n.1360-16G>T
XM_011534797.3:c.439-16G>T	XP_011533099.1:n.439-16G>T
XM_011534799.2:c.1360-16G>T	XP_011533101.1:n.1360-16G>T
XR_002957338.1:n.1564-16G>T
XR_002957339.1:n.1564-16G>T
XR_941395.2:n.1564-16G>T
NM_006231.4:c.1360-16G>T MANE Select	NP_006222.2:n.1360-16G>T