Canonical Allele Identifier: CA387364286

Gene: POLE

Linked Data

• gnomAD v4: 12-132676603-C-A
• MyVariant Identifiers: chr12:g.133253189C>A (hg19) ; chr12:g.132676603C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676603C>A , CM000674.2:g.132676603C>A	GRCh38
NC_000012.11:g.133253189C>A , CM000674.1:g.133253189C>A	GRCh37
NC_000012.10:g.131763262C>A	NCBI36
NG_033840.1:g.15922G>T , LRG_789:g.15922G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.879G>T
ENST00000699982.1:c.698G>T
ENST00000699983.1:c.698G>T
ENST00000699984.1:c.698G>T
ENST00000320574.10:c.852G>T MANE Select	ENSP00000322570.5:p.Lys284Asn
ENST00000672742.1:c.*346G>T	ENSP00000500279.1:n.*346G>T
ENST00000320574.9:c.852G>T	ENSP00000322570.5:p.Lys284Asn
ENST00000535270.5:c.771G>T	ENSP00000445753.1:p.Lys257Asn
ENST00000537064.5:c.852G>T	ENSP00000442578.1:p.Lys284Asn
NM_006231.3:c.852G>T , LRG_789t1:c.852G>T	NP_006222.2:p.Lys284Asn
XM_011534795.1:c.852G>T	XP_011533097.1:p.Lys284Asn
XM_011534796.1:c.723G>T	XP_011533098.1:p.Lys241Asn
XM_011534797.1:c.-50G>T	XP_011533099.1:n.-50G>T
XM_011534799.1:c.852G>T	XP_011533101.1:p.Lys284Asn
XM_011534800.1:c.852G>T	XP_011533102.1:p.Lys284Asn
XM_011534801.1:c.852G>T	XP_011533103.1:p.Lys284Asn
XR_941395.1:n.1061G>T
XM_011534795.3:c.852G>T	XP_011533097.1:p.Lys284Asn
XM_011534797.3:c.-50G>T	XP_011533099.1:n.-50G>T
XM_011534799.2:c.852G>T	XP_011533101.1:p.Lys284Asn
XR_002957338.1:n.1056G>T
XR_002957339.1:n.1056G>T
XR_941395.2:n.1056G>T
NM_006231.4:c.852G>T MANE Select	NP_006222.2:p.Lys284Asn