Canonical Allele Identifier: CA387364296

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133253194G>C (hg19) ; chr12:g.132676608G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.874C>G
ENST00000699982.1:c.693C>G
ENST00000699983.1:c.693C>G
ENST00000699984.1:c.693C>G
ENST00000320574.10:c.847C>G MANE Select	ENSP00000322570.5:p.Leu283Val
ENST00000672742.1:c.*341C>G	ENSP00000500279.1:n.*341C>G
ENST00000320574.9:c.847C>G	ENSP00000322570.5:p.Leu283Val
ENST00000535270.5:c.766C>G	ENSP00000445753.1:p.Leu256Val
ENST00000537064.5:c.847C>G	ENSP00000442578.1:p.Leu283Val
NM_006231.3:c.847C>G , LRG_789t1:c.847C>G	NP_006222.2:p.Leu283Val
XM_011534795.1:c.847C>G	XP_011533097.1:p.Leu283Val
XM_011534796.1:c.718C>G	XP_011533098.1:p.Leu240Val
XM_011534797.1:c.-55C>G	XP_011533099.1:n.-55C>G
XM_011534799.1:c.847C>G	XP_011533101.1:p.Leu283Val
XM_011534800.1:c.847C>G	XP_011533102.1:p.Leu283Val
XM_011534801.1:c.847C>G	XP_011533103.1:p.Leu283Val
XR_941395.1:n.1056C>G
XM_011534795.3:c.847C>G	XP_011533097.1:p.Leu283Val
XM_011534797.3:c.-55C>G	XP_011533099.1:n.-55C>G
XM_011534799.2:c.847C>G	XP_011533101.1:p.Leu283Val
XR_002957338.1:n.1051C>G
XR_002957339.1:n.1051C>G
XR_941395.2:n.1051C>G
NM_006231.4:c.847C>G MANE Select	NP_006222.2:p.Leu283Val