Canonical Allele Identifier: CA391690049

Gene: BUB1B PAK6 BUB1B-PAK6

Linked Data

• ClinVar Variation Id: 1799389
• ClinVar RCV Id: RCV002444236 ; RCV003103023
• dbSNP Id: rs2037889351
• gnomAD v3: 15-40220668-G-C
• gnomAD v4: 15-40220668-G-C
• MyVariant Identifiers: chr15:g.40512869G>C (hg19) ; chr15:g.40220668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220668G>C , CM000677.2:g.40220668G>C	GRCh38
NC_000015.9:g.40512869G>C , CM000677.1:g.40512869G>C	GRCh37
NC_000015.8:g.38300161G>C	NCBI36
NG_016338.1:g.64660G>C , LRG_489:g.64660G>C
NG_033169.1:g.8241G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.3062G>C (BUB1B) MANE Select	ENSP00000287598.7:p.Gly1021Ala
ENST00000453867.7:c.-118+3001G>C (PAK6)	ENSP00000401153.3:n.-118+3001G>C
ENST00000558658.6:c.-201+3001G>C (PAK6)	ENSP00000456785.2:n.-201+3001G>C
ENST00000287598.10:c.3062G>C (BUB1B)	ENSP00000287598.6:p.Gly1021Ala
ENST00000412359.7:c.3104G>C (BUB1B)	ENSP00000398470.3:p.Gly1035Ala
ENST00000441369.6:c.-201+3001G>C (BUB1B-PAK6)	ENSP00000406873.1:n.-201+3001G>C
ENST00000453867.6:c.83+3001G>C (BUB1B-PAK6)	ENSP00000401153.2:n.83+3001G>C
ENST00000558658.5:c.81+3001G>C (BUB1B-PAK6)	ENSP00000456785.1:n.81+3001G>C
ENST00000559435.1:c.168G>C (BUB1B-PAK6)
NM_001128628.2:c.-201+3001G>C (PAK6)	NP_001122100.1:n.-201+3001G>C
NM_001128629.2:c.-118+3001G>C (PAK6)	NP_001122101.1:n.-118+3001G>C
NM_001211.5:c.3062G>C , LRG_489t1:c.3062G>C (BUB1B)	NP_001202.4:p.Gly1021Ala
XR_001751506.1:n.217+18817C>G
NM_001128629.3:c.-118+3001G>C (BUB1B-PAK6)	NP_001122101.1:n.-118+3001G>C
NM_001211.6:c.3062G>C (BUB1B) MANE Select	NP_001202.5:p.Gly1021Ala
NM_001128628.3:c.-201+3001G>C (BUB1B-PAK6)	NP_001122100.1:n.-201+3001G>C