Canonical Allele Identifier: CA391685336
Gene: BUB1B HGNC NCBI

Linked Data

ClinVar Variation Id: 848799
ClinVar RCV Id: RCV002240227 RCV002393266
dbSNP Id: rs1453705308
gnomAD v2: 15-40477837-C-T
gnomAD v4: 15-40185636-C-T
MyVariant Identifiers: chr15:g.40477837C>T (hg19) chr15:g.40185636C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.1052C>T MANE Select ENSP00000287598.7:p.Pro351Leu
ENST00000287598.10:c.1052C>T ENSP00000287598.6:p.Pro351Leu
ENST00000412359.7:c.1094C>T ENSP00000398470.3:p.Pro365Leu
ENST00000557848.1:n.311C>T
ENST00000559733.5:c.170+1753C>T
ENST00000559772.1:n.165C>T
NM_001211.5:c.1052C>T , LRG_489t1:c.1052C>T NP_001202.4:p.Pro351Leu
XR_001751506.1:n.218-5435G>A
NM_001211.6:c.1052C>T MANE Select NP_001202.5:p.Pro351Leu
Search 100 bp 5'
Search 100 bp 3'