Canonical Allele Identifier: CA387364278

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133253186A>C (hg19) ; chr12:g.132676600A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676600A>C , CM000674.2:g.132676600A>C	GRCh38
NC_000012.11:g.133253186A>C , CM000674.1:g.133253186A>C	GRCh37
NC_000012.10:g.131763259A>C	NCBI36
NG_033840.1:g.15925T>G , LRG_789:g.15925T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.882T>G
ENST00000699982.1:c.701T>G
ENST00000699983.1:c.701T>G
ENST00000699984.1:c.701T>G
ENST00000320574.10:c.855T>G MANE Select	ENSP00000322570.5:p.Phe285Leu
ENST00000672742.1:c.*349T>G	ENSP00000500279.1:n.*349T>G
ENST00000320574.9:c.855T>G	ENSP00000322570.5:p.Phe285Leu
ENST00000535270.5:c.774T>G	ENSP00000445753.1:p.Phe258Leu
ENST00000537064.5:c.855T>G	ENSP00000442578.1:p.Phe285Leu
NM_006231.3:c.855T>G , LRG_789t1:c.855T>G	NP_006222.2:p.Phe285Leu
XM_011534795.1:c.855T>G	XP_011533097.1:p.Phe285Leu
XM_011534796.1:c.726T>G	XP_011533098.1:p.Phe242Leu
XM_011534797.1:c.-47T>G	XP_011533099.1:n.-47T>G
XM_011534799.1:c.855T>G	XP_011533101.1:p.Phe285Leu
XM_011534800.1:c.855T>G	XP_011533102.1:p.Phe285Leu
XM_011534801.1:c.855T>G	XP_011533103.1:p.Phe285Leu
XR_941395.1:n.1064T>G
XM_011534795.3:c.855T>G	XP_011533097.1:p.Phe285Leu
XM_011534797.3:c.-47T>G	XP_011533099.1:n.-47T>G
XM_011534799.2:c.855T>G	XP_011533101.1:p.Phe285Leu
XR_002957338.1:n.1059T>G
XR_002957339.1:n.1059T>G
XR_941395.2:n.1059T>G
NM_006231.4:c.855T>G MANE Select	NP_006222.2:p.Phe285Leu