Canonical Allele Identifier: CA387358323

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133249791T>A (hg19) ; chr12:g.132673205T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673205T>A , CM000674.2:g.132673205T>A	GRCh38
NC_000012.11:g.133249791T>A , CM000674.1:g.133249791T>A	GRCh37
NC_000012.10:g.131759864T>A	NCBI36
NG_033840.1:g.19320A>T , LRG_789:g.19320A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.140A>T
ENST00000545015.2:n.1459A>T
ENST00000699982.1:c.1286A>T
ENST00000699983.1:c.1286A>T
ENST00000699984.1:c.1286A>T
ENST00000320574.10:c.1432A>T MANE Select	ENSP00000322570.5:p.Ile478Phe
ENST00000672742.1:c.*934A>T	ENSP00000500279.1:n.*934A>T
ENST00000320574.9:c.1432A>T	ENSP00000322570.5:p.Ile478Phe
ENST00000535270.5:c.1351A>T	ENSP00000445753.1:p.Ile451Phe
ENST00000535934.2:n.1307A>T
ENST00000537064.5:c.*479A>T	ENSP00000442578.1:n.*479A>T
ENST00000539215.5:n.140A>T
ENST00000545015.1:n.29A>T
NM_006231.3:c.1432A>T , LRG_789t1:c.1432A>T	NP_006222.2:p.Ile478Phe
XM_011534795.1:c.1432A>T	XP_011533097.1:p.Ile478Phe
XM_011534796.1:c.1303A>T	XP_011533098.1:p.Ile435Phe
XM_011534797.1:c.511A>T	XP_011533099.1:p.Ile171Phe
XM_011534798.1:c.94A>T	XP_011533100.1:p.Ile32Phe
XM_011534799.1:c.1432A>T	XP_011533101.1:p.Ile478Phe
XM_011534800.1:c.1432A>T	XP_011533102.1:p.Ile478Phe
XM_011534801.1:c.1432A>T	XP_011533103.1:p.Ile478Phe
XR_941395.1:n.1641A>T
XM_011534795.3:c.1432A>T	XP_011533097.1:p.Ile478Phe
XM_011534797.3:c.511A>T	XP_011533099.1:p.Ile171Phe
XM_011534799.2:c.1432A>T	XP_011533101.1:p.Ile478Phe
XR_002957338.1:n.1636A>T
XR_002957339.1:n.1636A>T
XR_941395.2:n.1636A>T
NM_006231.4:c.1432A>T MANE Select	NP_006222.2:p.Ile478Phe