Canonical Allele Identifier: CA6892218

Gene: POLE

Linked Data

• ClinVar Variation Id: 380642
• ClinVar RCV Id: RCV000433294 ; RCV001518393 ; RCV001810913 ; RCV002502506
• dbSNP Id: rs5745024
• ExAC: 12:133208883 G / A
• gnomAD v2: 12-133208883-G-A
• gnomAD v3: 12-132632297-G-A
• gnomAD v4: 12-132632297-G-A
• MyVariant Identifiers: chr12:g.133208883G>A (hg19) ; chr12:g.132632297G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132632297G>A , CM000674.2:g.132632297G>A	GRCh38
NC_000012.11:g.133208883G>A , CM000674.1:g.133208883G>A	GRCh37
NC_000012.10:g.131718956G>A	NCBI36
NG_033840.1:g.60228C>T , LRG_789:g.60228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.1868+18C>T	ENSP00000500921.1:n.1868+18C>T
ENST00000534922.6:n.243+18C>T
ENST00000544870.6:c.3983+18C>T	ENSP00000479927.2:n.3983+18C>T
ENST00000699981.1:n.3984+18C>T
ENST00000699982.1:c.6184+18C>T
ENST00000699983.1:c.6888+18C>T
ENST00000699984.1:c.6116+18C>T
ENST00000320574.10:c.6330+18C>T MANE Select	ENSP00000322570.5:n.6330+18C>T
ENST00000434528.4:c.1868+18C>T	ENSP00000500921.1:n.1868+18C>T
ENST00000672002.1:c.4003+18C>T	ENSP00000500233.1:n.4003+18C>T
ENST00000672742.1:c.*6536+18C>T	ENSP00000500279.1:n.*6536+18C>T
ENST00000320574.9:c.6330+18C>T	ENSP00000322570.5:n.6330+18C>T
ENST00000441786.3:c.549+18C>T
ENST00000534922.5:n.243+18C>T
ENST00000535270.5:c.6249+18C>T	ENSP00000445753.1:n.6249+18C>T
ENST00000537064.5:c.*6081+18C>T	ENSP00000442578.1:n.*6081+18C>T
ENST00000538196.1:n.102+18C>T
ENST00000544692.5:n.1699+18C>T
ENST00000544870.5:c.608+18C>T
NM_006231.3:c.6330+18C>T , LRG_789t1:c.6330+18C>T	NP_006222.2:n.6330+18C>T
XM_011534795.1:c.6330+18C>T	XP_011533097.1:n.6330+18C>T
XM_011534796.1:c.6201+18C>T	XP_011533098.1:n.6201+18C>T
XM_011534797.1:c.5409+18C>T	XP_011533099.1:n.5409+18C>T
XM_011534798.1:c.4992+18C>T	XP_011533100.1:n.4992+18C>T
XM_011534802.1:c.3318+18C>T	XP_011533104.1:n.3318+18C>T
XM_011534795.3:c.6330+18C>T	XP_011533097.1:n.6330+18C>T
XM_011534797.3:c.5409+18C>T	XP_011533099.1:n.5409+18C>T
XM_011534802.3:c.3318+18C>T	XP_011533104.1:n.3318+18C>T
XR_002957339.1:n.6876+18C>T
NM_006231.4:c.6330+18C>T MANE Select	NP_006222.2:n.6330+18C>T