Canonical Allele Identifier: CA387370618

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132681262G>A , CM000674.2:g.132681262G>A	GRCh38
NC_000012.11:g.133257848G>A , CM000674.1:g.133257848G>A	GRCh37
NC_000012.10:g.131767921G>A	NCBI36
NG_033840.1:g.11263C>T , LRG_789:g.11263C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.80C>T MANE Select	NP_006222.2:p.Ser27Phe
ENST00000320574.10:c.80C>T MANE Select	ENSP00000322570.5:p.Ser27Phe
NM_006231.3:c.80C>T , LRG_789t1:c.80C>T	NP_006222.2:p.Ser27Phe
ENST00000320574.9:c.80C>T	ENSP00000322570.5:p.Ser27Phe
ENST00000535270.5:c.80C>T	ENSP00000445753.1:p.Ser27Phe
ENST00000537064.5:c.80C>T	ENSP00000442578.1:p.Ser27Phe
ENST00000539357.1:n.130C>T
ENST00000539618.1:n.18C>T
ENST00000545015.2:n.107C>T
ENST00000672742.1:c.80C>T	ENSP00000500279.1:p.Ser27Phe
ENST00000699985.1:n.141C>T
XM_011534795.1:c.80C>T	XP_011533097.1:p.Ser27Phe
XM_011534795.3:c.80C>T	XP_011533097.1:p.Ser27Phe
XM_011534796.1:c.-50C>T	XP_011533098.1:n.-50C>T
XM_011534799.1:c.80C>T	XP_011533101.1:p.Ser27Phe
XM_011534799.2:c.80C>T	XP_011533101.1:p.Ser27Phe
XM_011534800.1:c.80C>T	XP_011533102.1:p.Ser27Phe
XM_011534801.1:c.80C>T	XP_011533103.1:p.Ser27Phe
XR_002957338.1:n.284C>T
XR_002957339.1:n.284C>T
XR_941395.1:n.289C>T
XR_941395.2:n.284C>T