Canonical Allele Identifier: CA2574887237

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515764G>A , CM000673.2:g.66515764G>A	GRCh38
NC_000011.9:g.66283235G>A , CM000673.1:g.66283235G>A	GRCh37
NC_000011.8:g.66039811G>A	NCBI36
NG_009093.1:g.10117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.518+33G>A MANE Select	ENSP00000317469.7:n.518+33G>A
ENST00000318312.11:c.518+33G>A	ENSP00000317469.7:n.518+33G>A
ENST00000393994.4:c.518+33G>A	ENSP00000377563.2:n.518+33G>A
ENST00000419755.3:c.629+33G>A	ENSP00000398526.3:n.629+33G>A
ENST00000455748.6:c.432+1086G>A	ENSP00000405764.2:n.432+1086G>A
ENST00000524458.5:c.*211G>A	ENSP00000436195.1:n.*211G>A
ENST00000524907.5:n.614+33G>A
ENST00000525809.5:c.245+33G>A	ENSP00000431187.1:n.245+33G>A
ENST00000526035.5:c.*225+33G>A	ENSP00000434197.1:n.*225+33G>A
ENST00000526760.5:c.*225+33G>A	ENSP00000432140.1:n.*225+33G>A
ENST00000527251.5:c.*225+33G>A	ENSP00000434360.1:n.*225+33G>A
ENST00000528543.1:n.40+33G>A
ENST00000529766.5:n.525+33G>A
ENST00000529953.5:n.170+33G>A
ENST00000529955.5:n.489+33G>A
ENST00000532908.5:c.*178+33G>A	ENSP00000431866.1:n.*178+33G>A
ENST00000533430.5:n.296+33G>A
ENST00000533557.5:c.*178+33G>A	ENSP00000434619.1:n.*178+33G>A
ENST00000533644.5:c.471+33G>A	ENSP00000436073.1:n.471+33G>A
ENST00000534730.5:n.563G>A
ENST00000630659.2:c.*225+33G>A	ENSP00000486455.1:n.*225+33G>A
NM_024649.4:c.518+33G>A	NP_078925.3:n.518+33G>A
NM_024649.5:c.518+33G>A MANE Select	NP_078925.3:n.518+33G>A