Canonical Allele Identifier: CA1828438
Gene: BUB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.110674135T>C , CM000664.2:g.110674135T>C GRCh38
NC_000002.11:g.111431712T>C , CM000664.1:g.111431712T>C GRCh37
NC_000002.10:g.111148183T>C NCBI36
NG_012048.1:g.8973A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302759.11:c.176A>G MANE Select ENSP00000302530.6:p.Lys59Arg
ENST00000535254.6:c.116A>G ENSP00000441013.1:p.Lys39Arg
ENST00000666956.1:c.149A>G ENSP00000499728.1:p.Lys50Arg
ENST00000302759.10:c.176A>G ENSP00000302530.6:p.Lys59Arg
ENST00000409311.5:c.176A>G ENSP00000386701.1:p.Lys59Arg
ENST00000420328.5:c.149A>G ENSP00000409713.1:p.Lys50Arg
ENST00000436916.1:c.149A>G ENSP00000392219.1:p.Lys50Arg
ENST00000447014.5:c.149A>G ENSP00000402883.1:p.Lys50Arg
ENST00000465029.5:n.244A>G
ENST00000466333.5:n.209A>G
ENST00000535254.5:c.116A>G ENSP00000441013.1:p.Lys39Arg
NM_001278616.1:c.116A>G NP_001265545.1:p.Lys39Arg
NM_001278617.1:c.176A>G NP_001265546.1:p.Lys59Arg
NM_004336.4:c.176A>G NP_004327.1:p.Lys59Arg
XR_923001.1:n.275A>G
XR_923001.3:n.244A>G
NM_004336.5:c.176A>G MANE Select NP_004327.1:p.Lys59Arg
NM_001278616.2:c.116A>G NP_001265545.1:p.Lys39Arg
NM_001278617.2:c.176A>G NP_001265546.1:p.Lys59Arg