Canonical Allele Identifier: CA1827730

Gene: BUB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110641309G>A , CM000664.2:g.110641309G>A	GRCh38
NC_000002.11:g.111398886G>A , CM000664.1:g.111398886G>A	GRCh37
NC_000002.10:g.111115358G>A	NCBI36
NG_012048.1:g.41798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302759.11:c.2781C>T MANE Select	ENSP00000302530.6:p.Asn927=
ENST00000478175.2:n.776C>T
ENST00000535254.6:c.2721C>T	ENSP00000441013.1:p.Asn907=
ENST00000671097.1:c.1282C>T
ENST00000302759.10:c.2781C>T	ENSP00000302530.6:p.Asn927=
ENST00000409311.5:c.2626-117C>T	ENSP00000386701.1:n.2626-117C>T
ENST00000535254.5:c.2721C>T	ENSP00000441013.1:p.Asn907=
NM_001278616.1:c.2721C>T	NP_001265545.1:p.Asn907=
NM_001278617.1:c.2626-117C>T	NP_001265546.1:n.2626-117C>T
NM_004336.4:c.2781C>T	NP_004327.1:p.Asn927=
XR_923001.1:n.2921C>T
XR_923001.3:n.2890C>T
NM_004336.5:c.2781C>T MANE Select	NP_004327.1:p.Asn927=
NM_001278616.2:c.2721C>T	NP_001265545.1:p.Asn907=
NM_001278617.2:c.2626-117C>T	NP_001265546.1:n.2626-117C>T