Canonical Allele Identifier: CA391687426

Gene: BUB1B PAK6 BUB1B-PAK6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40217507C>G , CM000677.2:g.40217507C>G	GRCh38
NC_000015.9:g.40509708C>G , CM000677.1:g.40509708C>G	GRCh37
NC_000015.8:g.38297000C>G	NCBI36
NG_016338.1:g.61499C>G , LRG_489:g.61499C>G
NG_033169.1:g.5080C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001211.6:c.2690C>G (BUB1B) MANE Select	NP_001202.5:p.Pro897Arg
ENST00000287598.11:c.2690C>G (BUB1B) MANE Select	ENSP00000287598.7:p.Pro897Arg
NM_001128628.2:c.-361C>G (PAK6)	NP_001122100.1:n.-361C>G
NM_001128628.3:c.-361C>G (BUB1B-PAK6)	NP_001122100.1:n.-361C>G
NM_001128629.2:c.-278C>G (PAK6)	NP_001122101.1:n.-278C>G
NM_001128629.3:c.-278C>G (BUB1B-PAK6)	NP_001122101.1:n.-278C>G
NM_001211.5:c.2690C>G , LRG_489t1:c.2690C>G (BUB1B)	NP_001202.4:p.Pro897Arg
ENST00000287598.10:c.2690C>G (BUB1B)	ENSP00000287598.6:p.Pro897Arg
ENST00000412359.7:c.2732C>G (BUB1B)	ENSP00000398470.3:p.Pro911Arg
ENST00000441369.6:c.-361C>G (BUB1B-PAK6)	ENSP00000406873.1:n.-361C>G
ENST00000453867.6:c.-78C>G (BUB1B-PAK6)	ENSP00000401153.2:n.-78C>G
ENST00000453867.7:c.-278C>G (PAK6)	ENSP00000401153.3:n.-278C>G
ENST00000558151.1:n.91C>G (BUB1B)
XR_001751506.1:n.217+21978G>C