Canonical Allele Identifier: CA16619492
Gene: POLE HGNC NCBI

Linked Data

ClinVar Variation Id: 422515
ClinVar RCV Id: RCV000480674 RCV002475942 RCV003493600
dbSNP Id: rs1014146082
gnomAD v2: 12-133263948-C-A
gnomAD v3: 12-132687362-C-A
gnomAD v4: 12-132687362-C-A
MyVariant Identifiers: chr12:g.133263948C>A (hg19) chr12:g.132687362C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132687362C>A , CM000674.2:g.132687362C>A GRCh38
NC_000012.11:g.133263948C>A , CM000674.1:g.133263948C>A GRCh37
NC_000012.10:g.131774021C>A NCBI36
NG_033840.1:g.5163G>T , LRG_789:g.5163G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699985.1:n.15G>T
ENST00000672742.1:c.-47G>T ENSP00000500279.1:n.-47G>T
ENST00000539357.1:n.4G>T
NM_006231.3:c.-47G>T , LRG_789t1:c.-47G>T NP_006222.2:n.-47G>T
XM_011534795.1:c.-47G>T XP_011533097.1:n.-47G>T
XM_011534799.1:c.-47G>T XP_011533101.1:n.-47G>T
XM_011534800.1:c.-47G>T XP_011533102.1:n.-47G>T
XM_011534801.1:c.-47G>T XP_011533103.1:n.-47G>T
XR_941395.1:n.163G>T
XM_011534795.3:c.-47G>T XP_011533097.1:n.-47G>T
XM_011534799.2:c.-47G>T XP_011533101.1:n.-47G>T
XR_002957338.1:n.158G>T
XR_002957339.1:n.158G>T
XR_941395.2:n.158G>T
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