Canonical Allele Identifier: CA2627774580

Gene: BUB1B PAK6 BUB1B-PAK6

Linked Data

• gnomAD v4: 15-40220816-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220816C>A , CM000677.2:g.40220816C>A	GRCh38
NC_000015.9:g.40513017C>A , CM000677.1:g.40513017C>A	GRCh37
NC_000015.8:g.38300309C>A	NCBI36
NG_016338.1:g.64808C>A , LRG_489:g.64808C>A
NG_033169.1:g.8389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.*57C>A (BUB1B) MANE Select	ENSP00000287598.7:n.*57C>A
ENST00000453867.7:c.-118+3149C>A (PAK6)	ENSP00000401153.3:n.-118+3149C>A
ENST00000558658.6:c.-201+3149C>A (PAK6)	ENSP00000456785.2:n.-201+3149C>A
ENST00000287598.10:c.*57C>A (BUB1B)	ENSP00000287598.6:n.*57C>A
ENST00000412359.7:c.*57C>A (BUB1B)	ENSP00000398470.3:n.*57C>A
ENST00000441369.6:c.-201+3149C>A (BUB1B-PAK6)	ENSP00000406873.1:n.-201+3149C>A
ENST00000453867.6:c.83+3149C>A (BUB1B-PAK6)	ENSP00000401153.2:n.83+3149C>A
ENST00000558658.5:c.81+3149C>A (BUB1B-PAK6)	ENSP00000456785.1:n.81+3149C>A
ENST00000559435.1:c.217+99C>A (BUB1B-PAK6)
NM_001128628.2:c.-201+3149C>A (PAK6)	NP_001122100.1:n.-201+3149C>A
NM_001128629.2:c.-118+3149C>A (PAK6)	NP_001122101.1:n.-118+3149C>A
NM_001211.5:c.*57C>A , LRG_489t1:c.*57C>A (BUB1B)	NP_001202.4:n.*57C>A
XR_001751506.1:n.217+18669G>T
NM_001128629.3:c.-118+3149C>A (BUB1B-PAK6)	NP_001122101.1:n.-118+3149C>A
NM_001211.6:c.*57C>A (BUB1B) MANE Select	NP_001202.5:n.*57C>A
NM_001128628.3:c.-201+3149C>A (BUB1B-PAK6)	NP_001122100.1:n.-201+3149C>A