Canonical Allele Identifier: CA7475640
Gene: BUB1B HGNC NCBI

Linked Data

dbSNP Id: rs548650011
ExAC: 15:40477843 T / C
gnomAD v2: 15-40477843-T-C
gnomAD v3: 15-40185642-T-C
gnomAD v4: 15-40185642-T-C
MyVariant Identifiers: chr15:g.40477843T>C (hg19) chr15:g.40185642T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40185642T>C , CM000677.2:g.40185642T>C GRCh38
NC_000015.9:g.40477843T>C , CM000677.1:g.40477843T>C GRCh37
NC_000015.8:g.38265135T>C NCBI36
NG_016338.1:g.29634T>C , LRG_489:g.29634T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287598.11:c.1058T>C MANE Select ENSP00000287598.7:p.Met353Thr
ENST00000287598.10:c.1058T>C ENSP00000287598.6:p.Met353Thr
ENST00000412359.7:c.1100T>C ENSP00000398470.3:p.Met367Thr
ENST00000557848.1:n.317T>C
ENST00000559733.5:c.170+1759T>C
ENST00000559772.1:n.171T>C
NM_001211.5:c.1058T>C , LRG_489t1:c.1058T>C NP_001202.4:p.Met353Thr
XR_001751506.1:n.218-5441A>G
NM_001211.6:c.1058T>C MANE Select NP_001202.5:p.Met353Thr
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