Canonical Allele Identifier: CA1828248

Gene: BUB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110667505A>G , CM000664.2:g.110667505A>G	GRCh38
NC_000002.11:g.111425082A>G , CM000664.1:g.111425082A>G	GRCh37
NC_000002.10:g.111141553A>G	NCBI36
NG_012048.1:g.15603T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004336.5:c.805+16T>C MANE Select	NP_004327.1:n.805+16T>C
ENST00000302759.11:c.805+16T>C MANE Select	ENSP00000302530.6:n.805+16T>C
NM_001278616.1:c.745+16T>C	NP_001265545.1:n.745+16T>C
NM_001278616.2:c.745+16T>C	NP_001265545.1:n.745+16T>C
NM_001278617.1:c.805+16T>C	NP_001265546.1:n.805+16T>C
NM_001278617.2:c.805+16T>C	NP_001265546.1:n.805+16T>C
NM_004336.4:c.805+16T>C	NP_004327.1:n.805+16T>C
ENST00000302759.10:c.805+16T>C	ENSP00000302530.6:n.805+16T>C
ENST00000409311.5:c.805+16T>C	ENSP00000386701.1:n.805+16T>C
ENST00000465029.5:n.873+16T>C
ENST00000466333.5:n.838+16T>C
ENST00000468927.1:n.261+16T>C
ENST00000477481.1:n.45+16T>C
ENST00000535254.5:c.745+16T>C	ENSP00000441013.1:n.745+16T>C
ENST00000535254.6:c.745+16T>C	ENSP00000441013.1:n.745+16T>C
ENST00000666956.1:c.778+16T>C	ENSP00000499728.1:n.778+16T>C
XR_923001.1:n.904+16T>C
XR_923001.3:n.873+16T>C