Canonical Allele Identifier: CA968946885

Gene: BUB1B PAK6 BUB1B-PAK6

Linked Data

• dbSNP Id: rs2037894461
• gnomAD v3: 15-40220816-C-T
• gnomAD v4: 15-40220816-C-T

Genomic Alleles

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

Transcript Alleles

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