Canonical Allele Identifier: CA1827840

Gene: BUB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110649367A>C , CM000664.2:g.110649367A>C	GRCh38
NC_000002.11:g.111406944A>C , CM000664.1:g.111406944A>C	GRCh37
NC_000002.10:g.111123416A>C	NCBI36
NG_012048.1:g.33740T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302759.11:c.2214T>G MANE Select	ENSP00000302530.6:p.Val738=
ENST00000535254.6:c.2154T>G	ENSP00000441013.1:p.Val718=
ENST00000671097.1:c.674T>G
ENST00000302759.10:c.2214T>G	ENSP00000302530.6:p.Val738=
ENST00000409311.5:c.2214T>G	ENSP00000386701.1:p.Val738=
ENST00000466333.5:n.2247T>G
ENST00000490632.1:n.205T>G
ENST00000535254.5:c.2154T>G	ENSP00000441013.1:p.Val718=
NM_001278616.1:c.2154T>G	NP_001265545.1:p.Val718=
NM_001278617.1:c.2214T>G	NP_001265546.1:p.Val738=
NM_004336.4:c.2214T>G	NP_004327.1:p.Val738=
XR_923001.1:n.2313T>G
XR_923001.3:n.2282T>G
NM_004336.5:c.2214T>G MANE Select	NP_004327.1:p.Val738=
NM_001278616.2:c.2154T>G	NP_001265545.1:p.Val718=
NM_001278617.2:c.2214T>G	NP_001265546.1:p.Val738=