Canonical Allele Identifier: CA391689186

Gene: BUB1B PAK6 BUB1B-PAK6

Linked Data

• dbSNP Id: rs2037886014
• gnomAD v4: 15-40220565-C-G
• MyVariant Identifiers: chr15:g.40512766C>G (hg19) ; chr15:g.40220565C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220565C>G , CM000677.2:g.40220565C>G	GRCh38
NC_000015.9:g.40512766C>G , CM000677.1:g.40512766C>G	GRCh37
NC_000015.8:g.38300058C>G	NCBI36
NG_016338.1:g.64557C>G , LRG_489:g.64557C>G
NG_033169.1:g.8138C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000287598.11:c.2959C>G (BUB1B) MANE Select	ENSP00000287598.7:p.Leu987Val
ENST00000453867.7:c.-118+2898C>G (PAK6)	ENSP00000401153.3:n.-118+2898C>G
ENST00000558658.6:c.-201+2898C>G (PAK6)	ENSP00000456785.2:n.-201+2898C>G
ENST00000287598.10:c.2959C>G (BUB1B)	ENSP00000287598.6:p.Leu987Val
ENST00000412359.7:c.3001C>G (BUB1B)	ENSP00000398470.3:p.Leu1001Val
ENST00000441369.6:c.-201+2898C>G (BUB1B-PAK6)	ENSP00000406873.1:n.-201+2898C>G
ENST00000453867.6:c.83+2898C>G (BUB1B-PAK6)	ENSP00000401153.2:n.83+2898C>G
ENST00000558151.1:n.360C>G (BUB1B)
ENST00000558658.5:c.81+2898C>G (BUB1B-PAK6)	ENSP00000456785.1:n.81+2898C>G
ENST00000559435.1:c.65C>G (BUB1B-PAK6)
NM_001128628.2:c.-201+2898C>G (PAK6)	NP_001122100.1:n.-201+2898C>G
NM_001128629.2:c.-118+2898C>G (PAK6)	NP_001122101.1:n.-118+2898C>G
NM_001211.5:c.2959C>G , LRG_489t1:c.2959C>G (BUB1B)	NP_001202.4:p.Leu987Val
XR_001751506.1:n.217+18920G>C
NM_001128629.3:c.-118+2898C>G (BUB1B-PAK6)	NP_001122101.1:n.-118+2898C>G
NM_001211.6:c.2959C>G (BUB1B) MANE Select	NP_001202.5:p.Leu987Val
NM_001128628.3:c.-201+2898C>G (BUB1B-PAK6)	NP_001122100.1:n.-201+2898C>G