Canonical Allele Identifier: CA387356306

Gene: POLE

Linked Data

• gnomAD v4: 12-132672261-T-C
• MyVariant Identifiers: chr12:g.133248847T>C (hg19) ; chr12:g.132672261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672261T>C , CM000674.2:g.132672261T>C	GRCh38
NC_000012.11:g.133248847T>C , CM000674.1:g.133248847T>C	GRCh37
NC_000012.10:g.131758920T>C	NCBI36
NG_033840.1:g.20264A>G , LRG_789:g.20264A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.503A>G
ENST00000699982.1:c.1602A>G
ENST00000699983.1:c.1602A>G
ENST00000699984.1:c.1602A>G
ENST00000320574.10:c.1748A>G MANE Select	ENSP00000322570.5:p.Glu583Gly
ENST00000672742.1:c.*1250A>G	ENSP00000500279.1:n.*1250A>G
ENST00000320574.9:c.1748A>G	ENSP00000322570.5:p.Glu583Gly
ENST00000535270.5:c.1667A>G	ENSP00000445753.1:p.Glu556Gly
ENST00000537064.5:c.*795A>G	ENSP00000442578.1:n.*795A>G
NM_006231.3:c.1748A>G , LRG_789t1:c.1748A>G	NP_006222.2:p.Glu583Gly
XM_011534795.1:c.1748A>G	XP_011533097.1:p.Glu583Gly
XM_011534796.1:c.1619A>G	XP_011533098.1:p.Glu540Gly
XM_011534797.1:c.827A>G	XP_011533099.1:p.Glu276Gly
XM_011534798.1:c.410A>G	XP_011533100.1:p.Glu137Gly
XM_011534799.1:c.1748A>G	XP_011533101.1:p.Glu583Gly
XM_011534800.1:c.1748A>G	XP_011533102.1:p.Glu583Gly
XM_011534801.1:c.1748A>G	XP_011533103.1:p.Glu583Gly
XR_941395.1:n.1957A>G
XM_011534795.3:c.1748A>G	XP_011533097.1:p.Glu583Gly
XM_011534797.3:c.827A>G	XP_011533099.1:p.Glu276Gly
XM_011534799.2:c.1748A>G	XP_011533101.1:p.Glu583Gly
XR_002957338.1:n.1952A>G
XR_002957339.1:n.1952A>G
XR_941395.2:n.1952A>G
NM_006231.4:c.1748A>G MANE Select	NP_006222.2:p.Glu583Gly