Canonical Allele Identifier: CA348214319

Gene: BUB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110661655T>C , CM000664.2:g.110661655T>C	GRCh38
NC_000002.11:g.111419232T>C , CM000664.1:g.111419232T>C	GRCh37
NC_000002.10:g.111135705T>C	NCBI36
NG_012048.1:g.21451A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302759.11:c.1144A>G MANE Select	ENSP00000302530.6:p.Ile382Val
ENST00000535254.6:c.1084A>G	ENSP00000441013.1:p.Ile362Val
ENST00000666956.1:c.1117A>G	ENSP00000499728.1:p.Ile373Val
ENST00000302759.10:c.1144A>G	ENSP00000302530.6:p.Ile382Val
ENST00000409311.5:c.1144A>G	ENSP00000386701.1:p.Ile382Val
ENST00000465029.5:n.1212A>G
ENST00000466333.5:n.1177A>G
ENST00000477481.1:n.532A>G
ENST00000535254.5:c.1084A>G	ENSP00000441013.1:p.Ile362Val
NM_001278616.1:c.1084A>G	NP_001265545.1:p.Ile362Val
NM_001278617.1:c.1144A>G	NP_001265546.1:p.Ile382Val
NM_004336.4:c.1144A>G	NP_004327.1:p.Ile382Val
XR_923001.1:n.1243A>G
XR_923001.3:n.1212A>G
NM_004336.5:c.1144A>G MANE Select	NP_004327.1:p.Ile382Val
NM_001278616.2:c.1084A>G	NP_001265545.1:p.Ile362Val
NM_001278617.2:c.1144A>G	NP_001265546.1:p.Ile382Val