Canonical Allele Identifier: CA381457328

Gene: BBS1

Linked Data

• dbSNP Id: rs1942468039
• gnomAD v3: 11-66515561-C-G
• gnomAD v4: 11-66515561-C-G
• MyVariant Identifiers: chr11:g.66283032C>G (hg19) ; chr11:g.66515561C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515561C>G , CM000673.2:g.66515561C>G	GRCh38
NC_000011.9:g.66283032C>G , CM000673.1:g.66283032C>G	GRCh37
NC_000011.8:g.66039608C>G	NCBI36
NG_009093.1:g.9914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.454C>G MANE Select	ENSP00000317469.7:p.Leu152Val
ENST00000318312.11:c.454C>G	ENSP00000317469.7:p.Leu152Val
ENST00000393994.4:c.454C>G	ENSP00000377563.2:p.Leu152Val
ENST00000419755.3:c.565C>G	ENSP00000398526.3:p.Leu189Val
ENST00000455748.6:c.432+883C>G	ENSP00000405764.2:n.432+883C>G
ENST00000524458.5:c.*140-132C>G	ENSP00000436195.1:n.*140-132C>G
ENST00000524705.2:c.175C>G	ENSP00000436927.1:p.Leu59Val
ENST00000524907.5:n.444C>G
ENST00000525809.5:c.181C>G	ENSP00000431187.1:p.Leu61Val
ENST00000526035.5:c.*161C>G	ENSP00000434197.1:n.*161C>G
ENST00000526760.5:c.*161C>G	ENSP00000432140.1:n.*161C>G
ENST00000527251.5:c.*161C>G	ENSP00000434360.1:n.*161C>G
ENST00000529766.5:n.461C>G
ENST00000529953.5:n.106C>G
ENST00000529955.5:n.451-132C>G
ENST00000532908.5:c.*140-132C>G	ENSP00000431866.1:n.*140-132C>G
ENST00000533430.5:n.232C>G
ENST00000533557.5:c.*140-132C>G	ENSP00000434619.1:n.*140-132C>G
ENST00000533644.5:c.433-132C>G	ENSP00000436073.1:n.433-132C>G
ENST00000534730.5:n.466C>G
ENST00000630659.2:c.*161C>G	ENSP00000486455.1:n.*161C>G
NM_024649.4:c.454C>G	NP_078925.3:p.Leu152Val
NM_024649.5:c.454C>G MANE Select	NP_078925.3:p.Leu152Val