Canonical Allele Identifier: CA1828388
Gene: BUB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.110672765C>G , CM000664.2:g.110672765C>G GRCh38
NC_000002.11:g.111430342C>G , CM000664.1:g.111430342C>G GRCh37
NC_000002.10:g.111146813C>G NCBI36
NG_012048.1:g.10343G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302759.11:c.318G>C MANE Select ENSP00000302530.6:p.Ala106=
ENST00000535254.6:c.258G>C ENSP00000441013.1:p.Ala86=
ENST00000666956.1:c.291G>C ENSP00000499728.1:p.Ala97=
ENST00000302759.10:c.318G>C ENSP00000302530.6:p.Ala106=
ENST00000409311.5:c.318G>C ENSP00000386701.1:p.Ala106=
ENST00000420328.5:c.291G>C ENSP00000409713.1:p.Ala97=
ENST00000447014.5:c.291G>C ENSP00000402883.1:p.Ala97=
ENST00000465029.5:n.386G>C
ENST00000466333.5:n.351G>C
ENST00000535254.5:c.258G>C ENSP00000441013.1:p.Ala86=
NM_001278616.1:c.258G>C NP_001265545.1:p.Ala86=
NM_001278617.1:c.318G>C NP_001265546.1:p.Ala106=
NM_004336.4:c.318G>C NP_004327.1:p.Ala106=
XR_923001.1:n.417G>C
XR_923001.3:n.386G>C
NM_004336.5:c.318G>C MANE Select NP_004327.1:p.Ala106=
NM_001278616.2:c.258G>C NP_001265545.1:p.Ala86=
NM_001278617.2:c.318G>C NP_001265546.1:p.Ala106=