Canonical Allele Identifier: CA228932

Gene: BBS1

Linked Data

• ClinVar Variation Id: 100591
• ClinVar RCV Id: RCV000086980 ; RCV000359402 ; RCV000764995 ; RCV001701749 ; RCV003925097 ; RCV004019591
• dbSNP Id: rs137853913
• ExAC: 11:66282033 C / G
• gnomAD v2: 11-66282033-C-G
• gnomAD v3: 11-66514562-C-G
• gnomAD v4: 11-66514562-C-G
• MyVariant Identifiers: chr11:g.66282033C>G (hg19) ; chr11:g.66514562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514562C>G , CM000673.2:g.66514562C>G	GRCh38
NC_000011.9:g.66282033C>G , CM000673.1:g.66282033C>G	GRCh37
NC_000011.8:g.66038609C>G	NCBI36
NG_009093.1:g.8915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.316C>G MANE Select	ENSP00000317469.7:p.Leu106Val
ENST00000318312.11:c.316C>G	ENSP00000317469.7:p.Leu106Val
ENST00000393994.4:c.316C>G	ENSP00000377563.2:p.Leu106Val
ENST00000419755.3:c.427C>G	ENSP00000398526.3:p.Leu143Val
ENST00000455748.6:c.316C>G	ENSP00000405764.2:p.Leu106Val
ENST00000524458.5:c.*23C>G	ENSP00000436195.1:n.*23C>G
ENST00000524705.2:c.37C>G	ENSP00000436927.1:p.Leu13Val
ENST00000524907.5:n.306C>G
ENST00000525809.5:c.160-978C>G	ENSP00000431187.1:n.160-978C>G
ENST00000526035.5:c.*23C>G	ENSP00000434197.1:n.*23C>G
ENST00000526760.5:c.*23C>G	ENSP00000432140.1:n.*23C>G
ENST00000527251.5:c.*23C>G	ENSP00000434360.1:n.*23C>G
ENST00000529766.5:n.323C>G
ENST00000529955.5:n.334C>G
ENST00000532908.5:c.*23C>G	ENSP00000431866.1:n.*23C>G
ENST00000533430.5:n.94C>G
ENST00000533557.5:c.*23C>G	ENSP00000434619.1:n.*23C>G
ENST00000533644.5:c.316C>G	ENSP00000436073.1:p.Leu106Val
ENST00000534730.5:n.328C>G
ENST00000630659.2:c.*23C>G	ENSP00000486455.1:n.*23C>G
NM_024649.4:c.316C>G	NP_078925.3:p.Leu106Val
NM_024649.5:c.316C>G MANE Select	NP_078925.3:p.Leu106Val