Canonical Allele Identifier: CA387389561
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132657430C>A , CM000674.2:g.132657430C>A GRCh38
NC_000012.11:g.133234016C>A , CM000674.1:g.133234016C>A GRCh37
NC_000012.10:g.131744089C>A NCBI36
NG_033840.1:g.35095G>T , LRG_789:g.35095G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000416953.3:n.1002-1G>T
ENST00000544870.6:c.1052-1G>T ENSP00000479927.2:n.1052-1G>T
ENST00000699981.1:n.1033-1G>T
ENST00000699982.1:c.3233-1G>T
ENST00000699983.1:c.3937-1G>T
ENST00000699984.1:c.3233-1G>T
ENST00000320574.10:c.3379-1G>T MANE Select ENSP00000322570.5:n.3379-1G>T
ENST00000672002.1:c.1052-1G>T ENSP00000500233.1:n.1052-1G>T
ENST00000672742.1:c.*3585-1G>T ENSP00000500279.1:n.*3585-1G>T
ENST00000320574.9:c.3379-1G>T ENSP00000322570.5:n.3379-1G>T
ENST00000535270.5:c.3298-1G>T ENSP00000445753.1:n.3298-1G>T
ENST00000536445.5:n.1723-1G>T
ENST00000537064.5:c.*3130-1G>T ENSP00000442578.1:n.*3130-1G>T
NM_006231.3:c.3379-1G>T , LRG_789t1:c.3379-1G>T NP_006222.2:n.3379-1G>T
XM_011534795.1:c.3379-1G>T XP_011533097.1:n.3379-1G>T
XM_011534796.1:c.3250-1G>T XP_011533098.1:n.3250-1G>T
XM_011534797.1:c.2458-1G>T XP_011533099.1:n.2458-1G>T
XM_011534798.1:c.2041-1G>T XP_011533100.1:n.2041-1G>T
XM_011534799.1:c.3379-1G>T XP_011533101.1:n.3379-1G>T
XM_011534800.1:c.3379-1G>T XP_011533102.1:n.3379-1G>T
XM_011534801.1:c.3379-1G>T XP_011533103.1:n.3379-1G>T
XM_011534802.1:c.367-1G>T XP_011533104.1:n.367-1G>T
XR_941395.1:n.3588-1G>T
XM_011534795.3:c.3379-1G>T XP_011533097.1:n.3379-1G>T
XM_011534797.3:c.2458-1G>T XP_011533099.1:n.2458-1G>T
XM_011534799.2:c.3379-1G>T XP_011533101.1:n.3379-1G>T
XM_011534802.3:c.367-1G>T XP_011533104.1:n.367-1G>T
XR_002957338.1:n.3583-1G>T
XR_002957339.1:n.3583-1G>T
XR_941395.2:n.3583-1G>T
NM_006231.4:c.3379-1G>T MANE Select NP_006222.2:n.3379-1G>T