Canonical Allele Identifier: CA246292857

Gene: POLE

Linked Data

• ClinVar Variation Id: 484570
• ClinVar RCV Id: RCV000566975
• dbSNP Id: rs200095915
• gnomAD v2: 12-133248796-G-T
• gnomAD v3: 12-132672210-G-T
• gnomAD v4: 12-132672210-G-T
• MyVariant Identifiers: chr12:g.133248796G>T (hg19) ; chr12:g.132672210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672210G>T , CM000674.2:g.132672210G>T	GRCh38
NC_000012.11:g.133248796G>T , CM000674.1:g.133248796G>T	GRCh37
NC_000012.10:g.131758869G>T	NCBI36
NG_033840.1:g.20315C>A , LRG_789:g.20315C>A

Transcript Alleles

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