Canonical Allele Identifier: CA157787

Gene: BUB1B

Linked Data

• ClinVar Variation Id: 133779
• ClinVar RCV Id: RCV000120430 ; RCV000763966 ; RCV001762250 ; RCV000472793 ; RCV001543132
• dbSNP Id: rs141953425
• ExAC: 15:40477786 C / T
• gnomAD v2: 15-40477786-C-T
• gnomAD v3: 15-40185585-C-T
• gnomAD v4: 15-40185585-C-T
• MyVariant Identifiers: chr15:g.40477786C>T (hg19) ; chr15:g.40185585C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40185585C>T , CM000677.2:g.40185585C>T	GRCh38
NC_000015.9:g.40477786C>T , CM000677.1:g.40477786C>T	GRCh37
NC_000015.8:g.38265078C>T	NCBI36
NG_016338.1:g.29577C>T , LRG_489:g.29577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.1001C>T MANE Select	ENSP00000287598.7:p.Pro334Leu
ENST00000287598.10:c.1001C>T	ENSP00000287598.6:p.Pro334Leu
ENST00000412359.7:c.1043C>T	ENSP00000398470.3:p.Pro348Leu
ENST00000557848.1:n.260C>T
ENST00000559733.5:c.170+1702C>T
ENST00000559772.1:n.114C>T
NM_001211.5:c.1001C>T , LRG_489t1:c.1001C>T	NP_001202.4:p.Pro334Leu
XR_001751506.1:n.218-5384G>A
NM_001211.6:c.1001C>T MANE Select	NP_001202.5:p.Pro334Leu