Canonical Allele Identifier: CA118500
Gene: BUB1B HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.40202609G>A
GRCh37 chr15:g.40494810G>A
Revel Score:
ENST00000287598 (MANE Select) 0.016
ENST00000412359 0.016
ENST00000442874 0.016
gnomAD v2:
15:40494810 G / A
gnomAD v3:
15:40202609 G / A
gnomAD v4:
chr15-40202609-G-A
Joint Max Group AF 0.01171299 (EAS)
Genomes Max Group AF 0.01766941 (EAS)
Exomes Max Group AF 0.01061954 (EAS)
ClinVar RCV:
RCV000007164
RCV000007165
ClinVar Variation:
6766
dbSNP:
28989187
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40202609G>A , CM000677.2:g.40202609G>A GRCh38
NC_000015.9:g.40494810G>A , CM000677.1:g.40494810G>A GRCh37
NC_000015.8:g.38282102G>A NCBI36
NG_016338.1:g.46601G>A , LRG_489:g.46601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.1649G>A MANE Select ENSP00000287598.7:p.Arg550Gln
ENST00000287598.10:c.1649G>A ENSP00000287598.6:p.Arg550Gln
ENST00000412359.7:c.1691G>A ENSP00000398470.3:p.Arg564Gln
ENST00000558972.1:n.454G>A
ENST00000559733.5:c.761G>A
NM_001211.5:c.1649G>A , LRG_489t1:c.1649G>A NP_001202.4:p.Arg550Gln
XR_001751506.1:n.218-22408C>T
NM_001211.6:c.1649G>A MANE Select NP_001202.5:p.Arg550Gln
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