Canonical Allele Identifier: CA938989695

Gene: BBS1

Linked Data

• dbSNP Id: rs1856037594
• gnomAD v3: 11-66515796-T-C
• gnomAD v4: 11-66515796-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515796T>C , CM000673.2:g.66515796T>C	GRCh38
NC_000011.9:g.66283267T>C , CM000673.1:g.66283267T>C	GRCh37
NC_000011.8:g.66039843T>C	NCBI36
NG_009093.1:g.10149T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.519-65T>C MANE Select	ENSP00000317469.7:n.519-65T>C
ENST00000318312.11:c.519-65T>C	ENSP00000317469.7:n.519-65T>C
ENST00000393994.4:c.519-65T>C	ENSP00000377563.2:n.519-65T>C
ENST00000419755.3:c.630-65T>C	ENSP00000398526.3:n.630-65T>C
ENST00000455748.6:c.432+1118T>C	ENSP00000405764.2:n.432+1118T>C
ENST00000524458.5:c.*243T>C	ENSP00000436195.1:n.*243T>C
ENST00000524907.5:n.615-65T>C
ENST00000525809.5:c.246-65T>C	ENSP00000431187.1:n.246-65T>C
ENST00000526035.5:c.*226-65T>C	ENSP00000434197.1:n.*226-65T>C
ENST00000526760.5:c.*226-65T>C	ENSP00000432140.1:n.*226-65T>C
ENST00000527251.5:c.*226-65T>C	ENSP00000434360.1:n.*226-65T>C
ENST00000528543.1:n.41-65T>C
ENST00000529766.5:n.526-65T>C
ENST00000529953.5:n.171-65T>C
ENST00000529955.5:n.490-65T>C
ENST00000532908.5:c.*179-65T>C	ENSP00000431866.1:n.*179-65T>C
ENST00000533430.5:n.297-65T>C
ENST00000533557.5:c.*179-65T>C	ENSP00000434619.1:n.*179-65T>C
ENST00000533644.5:c.472-65T>C	ENSP00000436073.1:n.472-65T>C
ENST00000534730.5:n.595T>C
ENST00000630659.2:c.*226-65T>C	ENSP00000486455.1:n.*226-65T>C
NM_024649.4:c.519-65T>C	NP_078925.3:n.519-65T>C
NM_024649.5:c.519-65T>C MANE Select	NP_078925.3:n.519-65T>C