Canonical Allele Identifier: CA381457450

Gene: BBS1

Linked Data

• dbSNP Id: rs1856036059
• gnomAD v3: 11-66515716-C-G
• gnomAD v4: 11-66515716-C-G
• MyVariant Identifiers: chr11:g.66283187C>G (hg19) ; chr11:g.66515716C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515716C>G , CM000673.2:g.66515716C>G	GRCh38
NC_000011.9:g.66283187C>G , CM000673.1:g.66283187C>G	GRCh37
NC_000011.8:g.66039763C>G	NCBI36
NG_009093.1:g.10069C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.503C>G MANE Select	ENSP00000317469.7:p.Ser168Cys
ENST00000318312.11:c.503C>G	ENSP00000317469.7:p.Ser168Cys
ENST00000393994.4:c.503C>G	ENSP00000377563.2:p.Ser168Cys
ENST00000419755.3:c.614C>G	ENSP00000398526.3:p.Ser205Cys
ENST00000455748.6:c.432+1038C>G	ENSP00000405764.2:n.432+1038C>G
ENST00000524458.5:c.*163C>G	ENSP00000436195.1:n.*163C>G
ENST00000524907.5:n.599C>G
ENST00000525809.5:c.230C>G	ENSP00000431187.1:p.Ser77Cys
ENST00000526035.5:c.*210C>G	ENSP00000434197.1:n.*210C>G
ENST00000526760.5:c.*210C>G	ENSP00000432140.1:n.*210C>G
ENST00000527251.5:c.*210C>G	ENSP00000434360.1:n.*210C>G
ENST00000528543.1:n.25C>G
ENST00000529766.5:n.510C>G
ENST00000529953.5:n.155C>G
ENST00000529955.5:n.474C>G
ENST00000532908.5:c.*163C>G	ENSP00000431866.1:n.*163C>G
ENST00000533430.5:n.281C>G
ENST00000533557.5:c.*163C>G	ENSP00000434619.1:n.*163C>G
ENST00000533644.5:c.456C>G	ENSP00000436073.1:p.Val152=
ENST00000534730.5:n.515C>G
ENST00000630659.2:c.*210C>G	ENSP00000486455.1:n.*210C>G
NM_024649.4:c.503C>G	NP_078925.3:p.Ser168Cys
NM_024649.5:c.503C>G MANE Select	NP_078925.3:p.Ser168Cys