Canonical Allele Identifier: CA391687887

Gene: BUB1B PAK6 BUB1B-PAK6

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.2763G>T (BUB1B) MANE Select	ENSP00000287598.7:p.Gln921His
ENST00000453867.7:c.-205G>T (PAK6)	ENSP00000401153.3:n.-205G>T
ENST00000287598.10:c.2763G>T (BUB1B)	ENSP00000287598.6:p.Gln921His
ENST00000412359.7:c.2805G>T (BUB1B)	ENSP00000398470.3:p.Gln935His
ENST00000441369.6:c.-288G>T (BUB1B-PAK6)	ENSP00000406873.1:n.-288G>T
ENST00000453867.6:c.-5G>T (BUB1B-PAK6)	ENSP00000401153.2:n.-5G>T
ENST00000558151.1:n.164G>T (BUB1B)
NM_001128628.2:c.-288G>T (PAK6)	NP_001122100.1:n.-288G>T
NM_001128629.2:c.-205G>T (PAK6)	NP_001122101.1:n.-205G>T
NM_001211.5:c.2763G>T , LRG_489t1:c.2763G>T (BUB1B)	NP_001202.4:p.Gln921His
XR_001751506.1:n.217+21905C>A
NM_001128629.3:c.-205G>T (BUB1B-PAK6)	NP_001122101.1:n.-205G>T
NM_001211.6:c.2763G>T (BUB1B) MANE Select	NP_001202.5:p.Gln921His
NM_001128628.3:c.-288G>T (BUB1B-PAK6)	NP_001122100.1:n.-288G>T