Canonical Allele Identifier: CA118500
Gene: BUB1B HGNC NCBI

Linked Data

ClinVar Variation Id: 6766
ClinVar RCV Id: RCV000007164 RCV000007165
dbSNP Id: rs28989187
ExAC: 15:40494810 G / A
gnomAD v2: 15-40494810-G-A
gnomAD v3: 15-40202609-G-A
gnomAD v4: 15-40202609-G-A
MyVariant Identifiers: chr15:g.40494810G>A (hg19) chr15:g.40202609G>A (hg38)
PubMed: PMID:11169558 PMID:15475955
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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
Search 100 bp 5'
Search 100 bp 3'