Canonical Allele Identifier: CA53526844

Gene: BUB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110650637G>A , CM000664.2:g.110650637G>A	GRCh38
NC_000002.11:g.111408214G>A , CM000664.1:g.111408214G>A	GRCh37
NC_000002.10:g.111124686G>A	NCBI36
NG_012048.1:g.32470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302759.11:c.2112C>T MANE Select	ENSP00000302530.6:p.Asp704=
ENST00000535254.6:c.2052C>T	ENSP00000441013.1:p.Asp684=
ENST00000671097.1:c.572C>T
ENST00000302759.10:c.2112C>T	ENSP00000302530.6:p.Asp704=
ENST00000409311.5:c.2112C>T	ENSP00000386701.1:p.Asp704=
ENST00000466333.5:n.2145C>T
ENST00000490632.1:n.103C>T
ENST00000535254.5:c.2052C>T	ENSP00000441013.1:p.Asp684=
NM_001278616.1:c.2052C>T	NP_001265545.1:p.Asp684=
NM_001278617.1:c.2112C>T	NP_001265546.1:p.Asp704=
NM_004336.4:c.2112C>T	NP_004327.1:p.Asp704=
XR_923001.1:n.2211C>T
XR_923001.3:n.2180C>T
NM_004336.5:c.2112C>T MANE Select	NP_004327.1:p.Asp704=
NM_001278616.2:c.2052C>T	NP_001265545.1:p.Asp684=
NM_001278617.2:c.2112C>T	NP_001265546.1:p.Asp704=