Canonical Allele Identifier: CA391685334
Gene: BUB1B HGNC NCBI

Linked Data

gnomAD v4: 15-40185636-C-A
MyVariant Identifiers: chr15:g.40477837C>A (hg19) chr15:g.40185636C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40185636C>A , CM000677.2:g.40185636C>A GRCh38
NC_000015.9:g.40477837C>A , CM000677.1:g.40477837C>A GRCh37
NC_000015.8:g.38265129C>A NCBI36
NG_016338.1:g.29628C>A , LRG_489:g.29628C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.1052C>A MANE Select ENSP00000287598.7:p.Pro351Gln
ENST00000287598.10:c.1052C>A ENSP00000287598.6:p.Pro351Gln
ENST00000412359.7:c.1094C>A ENSP00000398470.3:p.Pro365Gln
ENST00000557848.1:n.311C>A
ENST00000559733.5:c.170+1753C>A
ENST00000559772.1:n.165C>A
NM_001211.5:c.1052C>A , LRG_489t1:c.1052C>A NP_001202.4:p.Pro351Gln
XR_001751506.1:n.218-5435G>T
NM_001211.6:c.1052C>A MANE Select NP_001202.5:p.Pro351Gln
Search 100 bp 5'
Search 100 bp 3'