Canonical Allele Identifier: CA157765

Gene: BUB1B

Linked Data

• ClinVar Variation Id: 6758
• ClinVar RCV Id: RCV000007150 ; RCV000120422 ; RCV000989284 ; RCV001594817 ; RCV002482837
• dbSNP Id: rs56079734
• ExAC: 15:40457337 C / T
• gnomAD v2: 15-40457337-C-T
• gnomAD v3: 15-40165136-C-T
• gnomAD v4: 15-40165136-C-T
• MyVariant Identifiers: chr15:g.40457337C>T (hg19) ; chr15:g.40165136C>T (hg38)
• PubMed: PMID:9521327 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40165136C>T , CM000677.2:g.40165136C>T	GRCh38
NC_000015.9:g.40457337C>T , CM000677.1:g.40457337C>T	GRCh37
NC_000015.8:g.38244629C>T	NCBI36
NG_016338.1:g.9128C>T , LRG_489:g.9128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.119C>T MANE Select	ENSP00000287598.7:p.Thr40Met
ENST00000287598.10:c.119C>T	ENSP00000287598.6:p.Thr40Met
ENST00000412359.7:c.119C>T	ENSP00000398470.3:p.Thr40Met
ENST00000558715.5:c.119C>T	ENSP00000453861.1:p.Thr40Met
ENST00000559414.5:n.297C>T
ENST00000560120.5:n.233+3881C>T
NM_001211.5:c.119C>T , LRG_489t1:c.119C>T	NP_001202.4:p.Thr40Met
NM_001211.6:c.119C>T MANE Select	NP_001202.5:p.Thr40Met