Canonical Allele Identifier: CA268763194

Gene: BUB1B PAK6 BUB1B-PAK6

Linked Data

• dbSNP Id: rs913380940
• gnomAD v3: 15-40220305-A-C
• gnomAD v4: 15-40220305-A-C
• MyVariant Identifiers: chr15:g.40512506A>C (hg19) ; chr15:g.40220305A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220305A>C , CM000677.2:g.40220305A>C	GRCh38
NC_000015.9:g.40512506A>C , CM000677.1:g.40512506A>C	GRCh37
NC_000015.8:g.38299798A>C	NCBI36
NG_016338.1:g.64297A>C , LRG_489:g.64297A>C
NG_033169.1:g.7878A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.2958-259A>C (BUB1B) MANE Select	ENSP00000287598.7:n.2958-259A>C
ENST00000453867.7:c.-118+2638A>C (PAK6)	ENSP00000401153.3:n.-118+2638A>C
ENST00000558658.6:c.-201+2638A>C (PAK6)	ENSP00000456785.2:n.-201+2638A>C
ENST00000287598.10:c.2958-259A>C (BUB1B)	ENSP00000287598.6:n.2958-259A>C
ENST00000412359.7:c.3000-259A>C (BUB1B)	ENSP00000398470.3:n.3000-259A>C
ENST00000441369.6:c.-201+2638A>C (BUB1B-PAK6)	ENSP00000406873.1:n.-201+2638A>C
ENST00000453867.6:c.83+2638A>C (BUB1B-PAK6)	ENSP00000401153.2:n.83+2638A>C
ENST00000558151.1:n.359-259A>C (BUB1B)
ENST00000558658.5:c.81+2638A>C (BUB1B-PAK6)	ENSP00000456785.1:n.81+2638A>C
ENST00000559435.1:c.64-259A>C (BUB1B-PAK6)
NM_001128628.2:c.-201+2638A>C (PAK6)	NP_001122100.1:n.-201+2638A>C
NM_001128629.2:c.-118+2638A>C (PAK6)	NP_001122101.1:n.-118+2638A>C
NM_001211.5:c.2958-259A>C , LRG_489t1:c.2958-259A>C (BUB1B)	NP_001202.4:n.2958-259A>C
XR_001751506.1:n.217+19180T>G
NM_001128629.3:c.-118+2638A>C (BUB1B-PAK6)	NP_001122101.1:n.-118+2638A>C
NM_001211.6:c.2958-259A>C (BUB1B) MANE Select	NP_001202.5:n.2958-259A>C
NM_001128628.3:c.-201+2638A>C (BUB1B-PAK6)	NP_001122100.1:n.-201+2638A>C