Canonical Allele Identifier: CA1828257

Gene: BUB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110667589T>G , CM000664.2:g.110667589T>G	GRCh38
NC_000002.11:g.111425166T>G , CM000664.1:g.111425166T>G	GRCh37
NC_000002.10:g.111141637T>G	NCBI36
NG_012048.1:g.15519A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302759.11:c.737A>C MANE Select	ENSP00000302530.6:p.Glu246Ala
ENST00000535254.6:c.677A>C	ENSP00000441013.1:p.Glu226Ala
ENST00000666956.1:c.710A>C	ENSP00000499728.1:p.Glu237Ala
ENST00000302759.10:c.737A>C	ENSP00000302530.6:p.Glu246Ala
ENST00000409311.5:c.737A>C	ENSP00000386701.1:p.Glu246Ala
ENST00000465029.5:n.805A>C
ENST00000466333.5:n.770A>C
ENST00000468927.1:n.193A>C
ENST00000535254.5:c.677A>C	ENSP00000441013.1:p.Glu226Ala
NM_001278616.1:c.677A>C	NP_001265545.1:p.Glu226Ala
NM_001278617.1:c.737A>C	NP_001265546.1:p.Glu246Ala
NM_004336.4:c.737A>C	NP_004327.1:p.Glu246Ala
XR_923001.1:n.836A>C
XR_923001.3:n.805A>C
NM_004336.5:c.737A>C MANE Select	NP_004327.1:p.Glu246Ala
NM_001278616.2:c.677A>C	NP_001265545.1:p.Glu226Ala
NM_001278617.2:c.737A>C	NP_001265546.1:p.Glu246Ala