Canonical Allele Identifier: CA2171675748

Gene: BUB1B PAK6 BUB1B-PAK6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40217580G= , CM000677.2:g.40217580G=	GRCh38
NC_000015.9:g.40509781G= , CM000677.1:g.40509781G=	GRCh37
NC_000015.8:g.38297073G=	NCBI36
NG_016338.1:g.61572G= , LRG_489:g.61572G=
NG_033169.1:g.5153G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001211.6:c.2763G= (BUB1B) MANE Select	NP_001202.5:p.Gln921=
ENST00000287598.11:c.2763G= (BUB1B) MANE Select	ENSP00000287598.7:p.Gln921=
NM_001128628.2:c.-288G= (PAK6)	NP_001122100.1:n.-288G=
NM_001128628.3:c.-288G= (BUB1B-PAK6)	NP_001122100.1:n.-288G=
NM_001128629.2:c.-205G= (PAK6)	NP_001122101.1:n.-205G=
NM_001128629.3:c.-205G= (BUB1B-PAK6)	NP_001122101.1:n.-205G=
NM_001211.5:c.2763G= , LRG_489t1:c.2763G= (BUB1B)	NP_001202.4:p.Gln921=
ENST00000287598.10:c.2763G= (BUB1B)	ENSP00000287598.6:p.Gln921=
ENST00000412359.7:c.2805G= (BUB1B)	ENSP00000398470.3:p.Gln935=
ENST00000441369.6:c.-288G= (BUB1B-PAK6)	ENSP00000406873.1:n.-288G=
ENST00000453867.6:c.-5G= (BUB1B-PAK6)	ENSP00000401153.2:n.-5G=
ENST00000453867.7:c.-205G= (PAK6)	ENSP00000401153.3:n.-205G=
ENST00000558151.1:n.164G= (BUB1B)
XR_001751506.1:n.217+21905C=