Canonical Allele Identifier: CA118494
Gene: BUB1B HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.40212554G>A
GRCh37 chr15:g.40504755G>A
Revel Score:
ENST00000287598 (MANE Select) 0.392
ENST00000412359 0.392
ENST00000442874 0.392
gnomAD v2:
15:40504755 G / A
gnomAD v3:
15:40212554 G / A
gnomAD v4:
chr15-40212554-G-A
Joint Max Group AF 0.00001108 (NFE)
Exomes Max Group AF 0.00001094 (NFE)
ClinVar RCV:
RCV000007160
RCV000007161
ClinVar Variation:
6764
dbSNP:
28989182
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40212554G>A , CM000677.2:g.40212554G>A GRCh38
NC_000015.9:g.40504755G>A , CM000677.1:g.40504755G>A GRCh37
NC_000015.8:g.38292047G>A NCBI36
NG_016338.1:g.56546G>A , LRG_489:g.56546G>A
NG_033169.1:g.127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.2441G>A MANE Select ENSP00000287598.7:p.Arg814His
ENST00000287598.10:c.2441G>A ENSP00000287598.6:p.Arg814His
ENST00000412359.7:c.2483G>A ENSP00000398470.3:p.Arg828His
NM_001211.5:c.2441G>A , LRG_489t1:c.2441G>A NP_001202.4:p.Arg814His
XR_001751506.1:n.217+26931C>T
NM_001211.6:c.2441G>A MANE Select NP_001202.5:p.Arg814His
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