Canonical Allele Identifier: CA913608307

Gene: BBS1

Linked Data

• dbSNP Id: rs1565282055
• gnomAD v2: 11-66283241-A-C
• gnomAD v3: 11-66515770-A-C
• gnomAD v4: 11-66515770-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515770A>C , CM000673.2:g.66515770A>C	GRCh38
NC_000011.9:g.66283241A>C , CM000673.1:g.66283241A>C	GRCh37
NC_000011.8:g.66039817A>C	NCBI36
NG_009093.1:g.10123A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.518+39A>C MANE Select	ENSP00000317469.7:n.518+39A>C
ENST00000318312.11:c.518+39A>C	ENSP00000317469.7:n.518+39A>C
ENST00000393994.4:c.518+39A>C	ENSP00000377563.2:n.518+39A>C
ENST00000419755.3:c.629+39A>C	ENSP00000398526.3:n.629+39A>C
ENST00000455748.6:c.432+1092A>C	ENSP00000405764.2:n.432+1092A>C
ENST00000524458.5:c.*217A>C	ENSP00000436195.1:n.*217A>C
ENST00000524907.5:n.614+39A>C
ENST00000525809.5:c.245+39A>C	ENSP00000431187.1:n.245+39A>C
ENST00000526035.5:c.*225+39A>C	ENSP00000434197.1:n.*225+39A>C
ENST00000526760.5:c.*225+39A>C	ENSP00000432140.1:n.*225+39A>C
ENST00000527251.5:c.*225+39A>C	ENSP00000434360.1:n.*225+39A>C
ENST00000528543.1:n.40+39A>C
ENST00000529766.5:n.525+39A>C
ENST00000529953.5:n.170+39A>C
ENST00000529955.5:n.489+39A>C
ENST00000532908.5:c.*178+39A>C	ENSP00000431866.1:n.*178+39A>C
ENST00000533430.5:n.296+39A>C
ENST00000533557.5:c.*178+39A>C	ENSP00000434619.1:n.*178+39A>C
ENST00000533644.5:c.471+39A>C	ENSP00000436073.1:n.471+39A>C
ENST00000534730.5:n.569A>C
ENST00000630659.2:c.*225+39A>C	ENSP00000486455.1:n.*225+39A>C
NM_024649.4:c.518+39A>C	NP_078925.3:n.518+39A>C
NM_024649.5:c.518+39A>C MANE Select	NP_078925.3:n.518+39A>C