Canonical Allele Identifier: CA427938617
Gene: BUB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.110660021A>G , CM000664.2:g.110660021A>G GRCh38
NC_000002.11:g.111417598A>G , CM000664.1:g.111417598A>G GRCh37
NC_000002.10:g.111134071A>G NCBI36
NG_012048.1:g.23085T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302759.11:c.1233T>C MANE Select ENSP00000302530.6:p.Ser411=
ENST00000535254.6:c.1173T>C ENSP00000441013.1:p.Ser391=
ENST00000666956.1:c.1206T>C ENSP00000499728.1:p.Ser402=
ENST00000302759.10:c.1233T>C ENSP00000302530.6:p.Ser411=
ENST00000409311.5:c.1233T>C ENSP00000386701.1:p.Ser411=
ENST00000466333.5:n.1266T>C
ENST00000535254.5:c.1173T>C ENSP00000441013.1:p.Ser391=
NM_001278616.1:c.1173T>C NP_001265545.1:p.Ser391=
NM_001278617.1:c.1233T>C NP_001265546.1:p.Ser411=
NM_004336.4:c.1233T>C NP_004327.1:p.Ser411=
XR_923001.1:n.1332T>C
XR_923001.3:n.1301T>C
NM_004336.5:c.1233T>C MANE Select NP_004327.1:p.Ser411=
NM_001278616.2:c.1173T>C NP_001265545.1:p.Ser391=
NM_001278617.2:c.1233T>C NP_001265546.1:p.Ser411=