Canonical Allele Identifier: CA391689491

Gene: BUB1B PAK6 BUB1B-PAK6

Linked Data

• dbSNP Id: rs1284413224
• gnomAD v2: 15-40512805-A-C
• MyVariant Identifiers: chr15:g.40512805A>C (hg19) ; chr15:g.40220604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220604A>C , CM000677.2:g.40220604A>C	GRCh38
NC_000015.9:g.40512805A>C , CM000677.1:g.40512805A>C	GRCh37
NC_000015.8:g.38300097A>C	NCBI36
NG_016338.1:g.64596A>C , LRG_489:g.64596A>C
NG_033169.1:g.8177A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.2998A>C (BUB1B) MANE Select	ENSP00000287598.7:p.Ile1000Leu
ENST00000453867.7:c.-118+2937A>C (PAK6)	ENSP00000401153.3:n.-118+2937A>C
ENST00000558658.6:c.-201+2937A>C (PAK6)	ENSP00000456785.2:n.-201+2937A>C
ENST00000287598.10:c.2998A>C (BUB1B)	ENSP00000287598.6:p.Ile1000Leu
ENST00000412359.7:c.3040A>C (BUB1B)	ENSP00000398470.3:p.Ile1014Leu
ENST00000441369.6:c.-201+2937A>C (BUB1B-PAK6)	ENSP00000406873.1:n.-201+2937A>C
ENST00000453867.6:c.83+2937A>C (BUB1B-PAK6)	ENSP00000401153.2:n.83+2937A>C
ENST00000558151.1:n.399A>C (BUB1B)
ENST00000558658.5:c.81+2937A>C (BUB1B-PAK6)	ENSP00000456785.1:n.81+2937A>C
ENST00000559435.1:c.104A>C (BUB1B-PAK6)
NM_001128628.2:c.-201+2937A>C (PAK6)	NP_001122100.1:n.-201+2937A>C
NM_001128629.2:c.-118+2937A>C (PAK6)	NP_001122101.1:n.-118+2937A>C
NM_001211.5:c.2998A>C , LRG_489t1:c.2998A>C (BUB1B)	NP_001202.4:p.Ile1000Leu
XR_001751506.1:n.217+18881T>G
NM_001128629.3:c.-118+2937A>C (BUB1B-PAK6)	NP_001122101.1:n.-118+2937A>C
NM_001211.6:c.2998A>C (BUB1B) MANE Select	NP_001202.5:p.Ile1000Leu
NM_001128628.3:c.-201+2937A>C (BUB1B-PAK6)	NP_001122100.1:n.-201+2937A>C