Canonical Allele Identifier: CA658798005

Gene: POLE

Linked Data

• ClinVar Variation Id: 509744
• ClinVar RCV Id: RCV000611782
• dbSNP Id: rs1265970870
• gnomAD v3: 12-132687333-C-T
• gnomAD v4: 12-132687333-C-T
• MyVariant Identifiers: chr12:g.133263919C>T (hg19) ; chr12:g.132687333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132687333C>T , CM000674.2:g.132687333C>T	GRCh38
NC_000012.11:g.133263919C>T , CM000674.1:g.133263919C>T	GRCh37
NC_000012.10:g.131773992C>T	NCBI36
NG_033840.1:g.5192G>A , LRG_789:g.5192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.10G>A
ENST00000699985.1:n.44G>A
ENST00000320574.10:c.-18G>A MANE Select	ENSP00000322570.5:n.-18G>A
ENST00000672742.1:c.-18G>A	ENSP00000500279.1:n.-18G>A
ENST00000320574.9:c.-18G>A	ENSP00000322570.5:n.-18G>A
ENST00000537064.5:c.-18G>A	ENSP00000442578.1:n.-18G>A
ENST00000539357.1:n.33G>A
NM_006231.3:c.-18G>A , LRG_789t1:c.-18G>A	NP_006222.2:n.-18G>A
XM_011534795.1:c.-18G>A	XP_011533097.1:n.-18G>A
XM_011534799.1:c.-18G>A	XP_011533101.1:n.-18G>A
XM_011534800.1:c.-18G>A	XP_011533102.1:n.-18G>A
XM_011534801.1:c.-18G>A	XP_011533103.1:n.-18G>A
XR_941395.1:n.192G>A
XM_011534795.3:c.-18G>A	XP_011533097.1:n.-18G>A
XM_011534799.2:c.-18G>A	XP_011533101.1:n.-18G>A
XR_002957338.1:n.187G>A
XR_002957339.1:n.187G>A
XR_941395.2:n.187G>A
NM_006231.4:c.-18G>A MANE Select	NP_006222.2:n.-18G>A