Canonical Allele Identifier: CA387356198

Gene: POLE

Linked Data

• gnomAD v4: 12-132672214-C-A
• MyVariant Identifiers: chr12:g.133248800C>A (hg19) ; chr12:g.132672214C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672214C>A , CM000674.2:g.132672214C>A	GRCh38
NC_000012.11:g.133248800C>A , CM000674.1:g.133248800C>A	GRCh37
NC_000012.10:g.131758873C>A	NCBI36
NG_033840.1:g.20311G>T , LRG_789:g.20311G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000539215.6:c.549+1G>T
ENST00000699982.1:c.1648+1G>T
ENST00000699983.1:c.1648+1G>T
ENST00000699984.1:c.1648+1G>T
ENST00000320574.10:c.1794+1G>T MANE Select	ENSP00000322570.5:n.1794+1G>T
ENST00000672742.1:c.*1296+1G>T	ENSP00000500279.1:n.*1296+1G>T
ENST00000320574.9:c.1794+1G>T	ENSP00000322570.5:n.1794+1G>T
ENST00000535270.5:c.1713+1G>T	ENSP00000445753.1:n.1713+1G>T
ENST00000537064.5:c.*841+1G>T	ENSP00000442578.1:n.*841+1G>T
NM_006231.3:c.1794+1G>T , LRG_789t1:c.1794+1G>T	NP_006222.2:n.1794+1G>T
XM_011534795.1:c.1794+1G>T	XP_011533097.1:n.1794+1G>T
XM_011534796.1:c.1665+1G>T	XP_011533098.1:n.1665+1G>T
XM_011534797.1:c.873+1G>T	XP_011533099.1:n.873+1G>T
XM_011534798.1:c.456+1G>T	XP_011533100.1:n.456+1G>T
XM_011534799.1:c.1794+1G>T	XP_011533101.1:n.1794+1G>T
XM_011534800.1:c.1794+1G>T	XP_011533102.1:n.1794+1G>T
XM_011534801.1:c.1794+1G>T	XP_011533103.1:n.1794+1G>T
XR_941395.1:n.2003+1G>T
XM_011534795.3:c.1794+1G>T	XP_011533097.1:n.1794+1G>T
XM_011534797.3:c.873+1G>T	XP_011533099.1:n.873+1G>T
XM_011534799.2:c.1794+1G>T	XP_011533101.1:n.1794+1G>T
XR_002957338.1:n.1998+1G>T
XR_002957339.1:n.1998+1G>T
XR_941395.2:n.1998+1G>T
NM_006231.4:c.1794+1G>T MANE Select	NP_006222.2:n.1794+1G>T