Canonical Allele Identifier: CA391685323

Gene: BUB1B

Linked Data

• MyVariant Identifiers: chr15:g.40477834A>T (hg19) ; chr15:g.40185633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40185633A>T , CM000677.2:g.40185633A>T	GRCh38
NC_000015.9:g.40477834A>T , CM000677.1:g.40477834A>T	GRCh37
NC_000015.8:g.38265126A>T	NCBI36
NG_016338.1:g.29625A>T , LRG_489:g.29625A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287598.11:c.1049A>T MANE Select	ENSP00000287598.7:p.Gln350Leu
ENST00000287598.10:c.1049A>T	ENSP00000287598.6:p.Gln350Leu
ENST00000412359.7:c.1091A>T	ENSP00000398470.3:p.Gln364Leu
ENST00000557848.1:n.308A>T
ENST00000559733.5:c.170+1750A>T
ENST00000559772.1:n.162A>T
NM_001211.5:c.1049A>T , LRG_489t1:c.1049A>T	NP_001202.4:p.Gln350Leu
XR_001751506.1:n.218-5432T>A
NM_001211.6:c.1049A>T MANE Select	NP_001202.5:p.Gln350Leu