Canonical Allele Identifier: CA6893978

Gene: POLE

Linked Data

• ClinVar Variation Id: 386531
• ClinVar RCV Id: RCV000444117
• dbSNP Id: rs149689764
• ExAC: 12:133249876 C / T
• gnomAD v2: 12-133249876-C-T
• gnomAD v3: 12-132673290-C-T
• gnomAD v4: 12-132673290-C-T
• MyVariant Identifiers: chr12:g.133249876C>T (hg19) ; chr12:g.132673290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673290C>T , CM000674.2:g.132673290C>T	GRCh38
NC_000012.11:g.133249876C>T , CM000674.1:g.133249876C>T	GRCh37
NC_000012.10:g.131759949C>T	NCBI36
NG_033840.1:g.19235G>A , LRG_789:g.19235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.68-13G>A
ENST00000545015.2:n.1387-13G>A
ENST00000699982.1:c.1214-13G>A
ENST00000699983.1:c.1214-13G>A
ENST00000699984.1:c.1214-13G>A
ENST00000320574.10:c.1360-13G>A MANE Select	ENSP00000322570.5:n.1360-13G>A
ENST00000672742.1:c.*862-13G>A	ENSP00000500279.1:n.*862-13G>A
ENST00000320574.9:c.1360-13G>A	ENSP00000322570.5:n.1360-13G>A
ENST00000535270.5:c.1279-13G>A	ENSP00000445753.1:n.1279-13G>A
ENST00000535934.2:n.1235-13G>A
ENST00000537064.5:c.*407-13G>A	ENSP00000442578.1:n.*407-13G>A
ENST00000539215.5:n.68-13G>A
NM_006231.3:c.1360-13G>A , LRG_789t1:c.1360-13G>A	NP_006222.2:n.1360-13G>A
XM_011534795.1:c.1360-13G>A	XP_011533097.1:n.1360-13G>A
XM_011534796.1:c.1231-13G>A	XP_011533098.1:n.1231-13G>A
XM_011534797.1:c.439-13G>A	XP_011533099.1:n.439-13G>A
XM_011534798.1:c.22-13G>A	XP_011533100.1:n.22-13G>A
XM_011534799.1:c.1360-13G>A	XP_011533101.1:n.1360-13G>A
XM_011534800.1:c.1360-13G>A	XP_011533102.1:n.1360-13G>A
XM_011534801.1:c.1360-13G>A	XP_011533103.1:n.1360-13G>A
XR_941395.1:n.1569-13G>A
XM_011534795.3:c.1360-13G>A	XP_011533097.1:n.1360-13G>A
XM_011534797.3:c.439-13G>A	XP_011533099.1:n.439-13G>A
XM_011534799.2:c.1360-13G>A	XP_011533101.1:n.1360-13G>A
XR_002957338.1:n.1564-13G>A
XR_002957339.1:n.1564-13G>A
XR_941395.2:n.1564-13G>A
NM_006231.4:c.1360-13G>A MANE Select	NP_006222.2:n.1360-13G>A