Canonical Allele Identifier: CA387359567

Gene: POLE

Linked Data

• dbSNP Id: rs1222137844
• MyVariant Identifiers: chr12:g.133250255T>A (hg19) ; chr12:g.132673669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673669T>A , CM000674.2:g.132673669T>A	GRCh38
NC_000012.11:g.133250255T>A , CM000674.1:g.133250255T>A	GRCh37
NC_000012.10:g.131760328T>A	NCBI36
NG_033840.1:g.18856A>T , LRG_789:g.18856A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.1292A>T
ENST00000699982.1:c.1119A>T
ENST00000699983.1:c.1119A>T
ENST00000699984.1:c.1119A>T
ENST00000320574.10:c.1265A>T MANE Select	ENSP00000322570.5:p.His422Leu
ENST00000672742.1:c.*767A>T	ENSP00000500279.1:n.*767A>T
ENST00000320574.9:c.1265A>T	ENSP00000322570.5:p.His422Leu
ENST00000535270.5:c.1184A>T	ENSP00000445753.1:p.His395Leu
ENST00000535934.2:n.1140A>T
ENST00000537064.5:c.*312A>T	ENSP00000442578.1:n.*312A>T
NM_006231.3:c.1265A>T , LRG_789t1:c.1265A>T	NP_006222.2:p.His422Leu
XM_011534795.1:c.1265A>T	XP_011533097.1:p.His422Leu
XM_011534796.1:c.1136A>T	XP_011533098.1:p.His379Leu
XM_011534797.1:c.344A>T	XP_011533099.1:p.His115Leu
XM_011534799.1:c.1265A>T	XP_011533101.1:p.His422Leu
XM_011534800.1:c.1265A>T	XP_011533102.1:p.His422Leu
XM_011534801.1:c.1265A>T	XP_011533103.1:p.His422Leu
XR_941395.1:n.1474A>T
XM_011534795.3:c.1265A>T	XP_011533097.1:p.His422Leu
XM_011534797.3:c.344A>T	XP_011533099.1:p.His115Leu
XM_011534799.2:c.1265A>T	XP_011533101.1:p.His422Leu
XR_002957338.1:n.1469A>T
XR_002957339.1:n.1469A>T
XR_941395.2:n.1469A>T
NM_006231.4:c.1265A>T MANE Select	NP_006222.2:p.His422Leu