Canonical Allele Identifier: CA1828209

Gene: BUB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110666284G>A , CM000664.2:g.110666284G>A	GRCh38
NC_000002.11:g.111423861G>A , CM000664.1:g.111423861G>A	GRCh37
NC_000002.10:g.111140332G>A	NCBI36
NG_012048.1:g.16824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302759.11:c.936C>T MANE Select	ENSP00000302530.6:p.Pro312=
ENST00000535254.6:c.876C>T	ENSP00000441013.1:p.Pro292=
ENST00000666956.1:c.909C>T	ENSP00000499728.1:p.Pro303=
ENST00000302759.10:c.936C>T	ENSP00000302530.6:p.Pro312=
ENST00000409311.5:c.936C>T	ENSP00000386701.1:p.Pro312=
ENST00000465029.5:n.1004C>T
ENST00000466333.5:n.969C>T
ENST00000468927.1:n.392C>T
ENST00000477481.1:n.176C>T
ENST00000535254.5:c.876C>T	ENSP00000441013.1:p.Pro292=
NM_001278616.1:c.876C>T	NP_001265545.1:p.Pro292=
NM_001278617.1:c.936C>T	NP_001265546.1:p.Pro312=
NM_004336.4:c.936C>T	NP_004327.1:p.Pro312=
XR_923001.1:n.1035C>T
XR_923001.3:n.1004C>T
NM_004336.5:c.936C>T MANE Select	NP_004327.1:p.Pro312=
NM_001278616.2:c.876C>T	NP_001265545.1:p.Pro292=
NM_001278617.2:c.936C>T	NP_001265546.1:p.Pro312=