Canonical Allele Identifier: CA599876041

Gene: BBS1

Linked Data

• ClinVar Variation Id: 2068996
• ClinVar RCV Id: RCV002954438
• dbSNP Id: rs1462048534
• gnomAD v2: 11-66287082-C-A
• gnomAD v3: 11-66519611-C-A
• gnomAD v4: 11-66519611-C-A
• MyVariant Identifiers: chr11:g.66287082C>A (hg19) ; chr11:g.66519611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519611C>A , CM000673.2:g.66519611C>A	GRCh38
NC_000011.9:g.66287082C>A , CM000673.1:g.66287082C>A	GRCh37
NC_000011.8:g.66043658C>A	NCBI36
NG_009093.1:g.13964C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.592-6C>A MANE Select	ENSP00000317469.7:n.592-6C>A
ENST00000318312.11:c.592-6C>A	ENSP00000317469.7:n.592-6C>A
ENST00000393994.4:c.592-6C>A	ENSP00000377563.2:n.592-6C>A
ENST00000419755.3:c.703-6C>A	ENSP00000398526.3:n.703-6C>A
ENST00000455748.6:c.433-1659C>A	ENSP00000405764.2:n.433-1659C>A
ENST00000524458.5:c.*381-6C>A	ENSP00000436195.1:n.*381-6C>A
ENST00000524907.5:n.688-6C>A
ENST00000525809.5:c.319-6C>A	ENSP00000431187.1:n.319-6C>A
ENST00000526035.5:c.*299-10C>A	ENSP00000434197.1:n.*299-10C>A
ENST00000526760.5:c.*299-6C>A	ENSP00000432140.1:n.*299-6C>A
ENST00000527251.5:c.*299-6C>A	ENSP00000434360.1:n.*299-6C>A
ENST00000528543.1:n.114-6C>A
ENST00000529766.5:n.599-6C>A
ENST00000529953.5:n.244-6C>A
ENST00000529955.5:n.563-6C>A
ENST00000532908.5:c.*252-6C>A	ENSP00000431866.1:n.*252-6C>A
ENST00000533430.5:n.370-6C>A
ENST00000533557.5:c.*252-6C>A	ENSP00000434619.1:n.*252-6C>A
ENST00000533644.5:c.*50-6C>A	ENSP00000436073.1:n.*50-6C>A
ENST00000630659.2:c.*299-6C>A	ENSP00000486455.1:n.*299-6C>A
NM_024649.4:c.592-6C>A	NP_078925.3:n.592-6C>A
NM_024649.5:c.592-6C>A MANE Select	NP_078925.3:n.592-6C>A