Canonical Allele Identifier: CA387364297

Gene: POLE

Linked Data

• dbSNP Id: rs878854898
• MyVariant Identifiers: chr12:g.133253194G>T (hg19) ; chr12:g.132676608G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676608G>T , CM000674.2:g.132676608G>T	GRCh38
NC_000012.11:g.133253194G>T , CM000674.1:g.133253194G>T	GRCh37
NC_000012.10:g.131763267G>T	NCBI36
NG_033840.1:g.15917C>A , LRG_789:g.15917C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.874C>A
ENST00000699982.1:c.693C>A
ENST00000699983.1:c.693C>A
ENST00000699984.1:c.693C>A
ENST00000320574.10:c.847C>A MANE Select	ENSP00000322570.5:p.Leu283Ile
ENST00000672742.1:c.*341C>A	ENSP00000500279.1:n.*341C>A
ENST00000320574.9:c.847C>A	ENSP00000322570.5:p.Leu283Ile
ENST00000535270.5:c.766C>A	ENSP00000445753.1:p.Leu256Ile
ENST00000537064.5:c.847C>A	ENSP00000442578.1:p.Leu283Ile
NM_006231.3:c.847C>A , LRG_789t1:c.847C>A	NP_006222.2:p.Leu283Ile
XM_011534795.1:c.847C>A	XP_011533097.1:p.Leu283Ile
XM_011534796.1:c.718C>A	XP_011533098.1:p.Leu240Ile
XM_011534797.1:c.-55C>A	XP_011533099.1:n.-55C>A
XM_011534799.1:c.847C>A	XP_011533101.1:p.Leu283Ile
XM_011534800.1:c.847C>A	XP_011533102.1:p.Leu283Ile
XM_011534801.1:c.847C>A	XP_011533103.1:p.Leu283Ile
XR_941395.1:n.1056C>A
XM_011534795.3:c.847C>A	XP_011533097.1:p.Leu283Ile
XM_011534797.3:c.-55C>A	XP_011533099.1:n.-55C>A
XM_011534799.2:c.847C>A	XP_011533101.1:p.Leu283Ile
XR_002957338.1:n.1051C>A
XR_002957339.1:n.1051C>A
XR_941395.2:n.1051C>A
NM_006231.4:c.847C>A MANE Select	NP_006222.2:p.Leu283Ile