Canonical Allele Identifier: CA599875363

Gene: BBS1

Linked Data

• dbSNP Id: rs1428602590
• gnomAD v2: 11-66282463-T-C
• gnomAD v3: 11-66514992-T-C
• gnomAD v4: 11-66514992-T-C
• MyVariant Identifiers: chr11:g.66282463T>C (hg19) ; chr11:g.66514992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514992T>C , CM000673.2:g.66514992T>C	GRCh38
NC_000011.9:g.66282463T>C , CM000673.1:g.66282463T>C	GRCh37
NC_000011.8:g.66039039T>C	NCBI36
NG_009093.1:g.9345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.432+314T>C MANE Select	ENSP00000317469.7:n.432+314T>C
ENST00000318312.11:c.432+314T>C	ENSP00000317469.7:n.432+314T>C
ENST00000393994.4:c.432+314T>C	ENSP00000377563.2:n.432+314T>C
ENST00000419755.3:c.543+314T>C	ENSP00000398526.3:n.543+314T>C
ENST00000455748.6:c.432+314T>C	ENSP00000405764.2:n.432+314T>C
ENST00000524458.5:c.*139+314T>C	ENSP00000436195.1:n.*139+314T>C
ENST00000524705.2:c.153+314T>C	ENSP00000436927.1:n.153+314T>C
ENST00000524907.5:n.422+314T>C
ENST00000525809.5:c.160-548T>C	ENSP00000431187.1:n.160-548T>C
ENST00000526035.5:c.*139+314T>C	ENSP00000434197.1:n.*139+314T>C
ENST00000526760.5:c.*139+314T>C	ENSP00000432140.1:n.*139+314T>C
ENST00000527251.5:c.*139+314T>C	ENSP00000434360.1:n.*139+314T>C
ENST00000529766.5:n.439+314T>C
ENST00000529953.5:n.84+314T>C
ENST00000529955.5:n.450+314T>C
ENST00000532908.5:c.*139+314T>C	ENSP00000431866.1:n.*139+314T>C
ENST00000533430.5:n.210+314T>C
ENST00000533557.5:c.*139+314T>C	ENSP00000434619.1:n.*139+314T>C
ENST00000533644.5:c.432+314T>C	ENSP00000436073.1:n.432+314T>C
ENST00000534730.5:n.444+314T>C
ENST00000630659.2:c.*139+314T>C	ENSP00000486455.1:n.*139+314T>C
NM_024649.4:c.432+314T>C	NP_078925.3:n.432+314T>C
NM_024649.5:c.432+314T>C MANE Select	NP_078925.3:n.432+314T>C