Canonical Allele Identifier: CA6123351

Gene: BBS1

Linked Data

• ClinVar Variation Id: 370228
• ClinVar RCV Id: RCV000411434 ; RCV000504813 ; RCV001074216 ; RCV001092069 ; RCV001387773 ; RCV003922662
• dbSNP Id: rs376894444
• ExAC: 11:66283057 G / A
• gnomAD v2: 11-66283057-G-A
• gnomAD v3: 11-66515586-G-A
• gnomAD v4: 11-66515586-G-A
• MyVariant Identifiers: chr11:g.66283057G>A (hg19) ; chr11:g.66515586G>A (hg38)
• PubMed: PMID:15770229 ; PMID:20120035 ; PMID:20177705 ; PMID:21344540 ; PMID:21520335 ; PMID:22773737 ; PMID:26261414 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515586G>A , CM000673.2:g.66515586G>A	GRCh38
NC_000011.9:g.66283057G>A , CM000673.1:g.66283057G>A	GRCh37
NC_000011.8:g.66039633G>A	NCBI36
NG_009093.1:g.9939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.479G>A MANE Select	ENSP00000317469.7:p.Arg160Gln
ENST00000318312.11:c.479G>A	ENSP00000317469.7:p.Arg160Gln
ENST00000393994.4:c.479G>A	ENSP00000377563.2:p.Arg160Gln
ENST00000419755.3:c.590G>A	ENSP00000398526.3:p.Arg197Gln
ENST00000455748.6:c.432+908G>A	ENSP00000405764.2:n.432+908G>A
ENST00000524458.5:c.*140-107G>A	ENSP00000436195.1:n.*140-107G>A
ENST00000524705.2:c.200G>A
ENST00000524907.5:n.469G>A
ENST00000525809.5:c.206G>A	ENSP00000431187.1:p.Arg69Gln
ENST00000526035.5:c.*186G>A	ENSP00000434197.1:n.*186G>A
ENST00000526760.5:c.*186G>A	ENSP00000432140.1:n.*186G>A
ENST00000527251.5:c.*186G>A	ENSP00000434360.1:n.*186G>A
ENST00000529766.5:n.486G>A
ENST00000529953.5:n.131G>A
ENST00000529955.5:n.451-107G>A
ENST00000532908.5:c.*140-107G>A	ENSP00000431866.1:n.*140-107G>A
ENST00000533430.5:n.257G>A
ENST00000533557.5:c.*140-107G>A	ENSP00000434619.1:n.*140-107G>A
ENST00000533644.5:c.433-107G>A	ENSP00000436073.1:n.433-107G>A
ENST00000534730.5:n.491G>A
ENST00000630659.2:c.*186G>A	ENSP00000486455.1:n.*186G>A
NM_024649.4:c.479G>A	NP_078925.3:p.Arg160Gln
NM_024649.5:c.479G>A MANE Select	NP_078925.3:p.Arg160Gln