Canonical Allele Identifier: CA1827767
Gene: BUB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.110641786G>A , CM000664.2:g.110641786G>A GRCh38
NC_000002.11:g.111399363G>A , CM000664.1:g.111399363G>A GRCh37
NC_000002.10:g.111115835G>A NCBI36
NG_012048.1:g.41321C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302759.11:c.2481C>T MANE Select ENSP00000302530.6:p.Asn827=
ENST00000478175.2:n.476C>T
ENST00000535254.6:c.2421C>T ENSP00000441013.1:p.Asn807=
ENST00000671097.1:c.982C>T
ENST00000302759.10:c.2481C>T ENSP00000302530.6:p.Asn827=
ENST00000409311.5:c.2481C>T ENSP00000386701.1:p.Asn827=
ENST00000478175.1:n.476C>T
ENST00000535254.5:c.2421C>T ENSP00000441013.1:p.Asn807=
NM_001278616.1:c.2421C>T NP_001265545.1:p.Asn807=
NM_001278617.1:c.2481C>T NP_001265546.1:p.Asn827=
NM_004336.4:c.2481C>T NP_004327.1:p.Asn827=
XR_923001.1:n.2621C>T
XR_923001.3:n.2590C>T
NM_004336.5:c.2481C>T MANE Select NP_004327.1:p.Asn827=
NM_001278616.2:c.2421C>T NP_001265545.1:p.Asn807=
NM_001278617.2:c.2481C>T NP_001265546.1:p.Asn827=