Canonical Allele Identifier: CA391685317

Gene: BUB1B

Linked Data

• gnomAD v4: 15-40185632-C-T
• MyVariant Identifiers: chr15:g.40477833C>T (hg19) ; chr15:g.40185632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40185632C>T , CM000677.2:g.40185632C>T	GRCh38
NC_000015.9:g.40477833C>T , CM000677.1:g.40477833C>T	GRCh37
NC_000015.8:g.38265125C>T	NCBI36
NG_016338.1:g.29624C>T , LRG_489:g.29624C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287598.11:c.1048C>T MANE Select	ENSP00000287598.7:p.Gln350Ter
ENST00000287598.10:c.1048C>T	ENSP00000287598.6:p.Gln350Ter
ENST00000412359.7:c.1090C>T	ENSP00000398470.3:p.Gln364Ter
ENST00000557848.1:n.307C>T
ENST00000559733.5:c.170+1749C>T
ENST00000559772.1:n.161C>T
NM_001211.5:c.1048C>T , LRG_489t1:c.1048C>T	NP_001202.4:p.Gln350Ter
XR_001751506.1:n.218-5431G>A
NM_001211.6:c.1048C>T MANE Select	NP_001202.5:p.Gln350Ter