Canonical Allele Identifier: CA381457371

Gene: BBS1

Linked Data

• ClinVar Variation Id: 3028232
• ClinVar RCV Id: RCV003889602
• gnomAD v4: 11-66515579-A-G
• MyVariant Identifiers: chr11:g.66283050A>G (hg19) ; chr11:g.66515579A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515579A>G , CM000673.2:g.66515579A>G	GRCh38
NC_000011.9:g.66283050A>G , CM000673.1:g.66283050A>G	GRCh37
NC_000011.8:g.66039626A>G	NCBI36
NG_009093.1:g.9932A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.472A>G MANE Select	ENSP00000317469.7:p.Ser158Gly
ENST00000318312.11:c.472A>G	ENSP00000317469.7:p.Ser158Gly
ENST00000393994.4:c.472A>G	ENSP00000377563.2:p.Ser158Gly
ENST00000419755.3:c.583A>G	ENSP00000398526.3:p.Ser195Gly
ENST00000455748.6:c.432+901A>G	ENSP00000405764.2:n.432+901A>G
ENST00000524458.5:c.*140-114A>G	ENSP00000436195.1:n.*140-114A>G
ENST00000524705.2:c.193A>G	ENSP00000436927.1:p.Ser65Gly
ENST00000524907.5:n.462A>G
ENST00000525809.5:c.199A>G	ENSP00000431187.1:p.Ser67Gly
ENST00000526035.5:c.*179A>G	ENSP00000434197.1:n.*179A>G
ENST00000526760.5:c.*179A>G	ENSP00000432140.1:n.*179A>G
ENST00000527251.5:c.*179A>G	ENSP00000434360.1:n.*179A>G
ENST00000529766.5:n.479A>G
ENST00000529953.5:n.124A>G
ENST00000529955.5:n.451-114A>G
ENST00000532908.5:c.*140-114A>G	ENSP00000431866.1:n.*140-114A>G
ENST00000533430.5:n.250A>G
ENST00000533557.5:c.*140-114A>G	ENSP00000434619.1:n.*140-114A>G
ENST00000533644.5:c.433-114A>G	ENSP00000436073.1:n.433-114A>G
ENST00000534730.5:n.484A>G
ENST00000630659.2:c.*179A>G	ENSP00000486455.1:n.*179A>G
NM_024649.4:c.472A>G	NP_078925.3:p.Ser158Gly
NM_024649.5:c.472A>G MANE Select	NP_078925.3:p.Ser158Gly