Canonical Allele Identifier: CA2574887243

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515811G>T , CM000673.2:g.66515811G>T	GRCh38
NC_000011.9:g.66283282G>T , CM000673.1:g.66283282G>T	GRCh37
NC_000011.8:g.66039858G>T	NCBI36
NG_009093.1:g.10164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.519-50G>T MANE Select	ENSP00000317469.7:n.519-50G>T
ENST00000318312.11:c.519-50G>T	ENSP00000317469.7:n.519-50G>T
ENST00000393994.4:c.519-50G>T	ENSP00000377563.2:n.519-50G>T
ENST00000419755.3:c.630-50G>T	ENSP00000398526.3:n.630-50G>T
ENST00000455748.6:c.432+1133G>T	ENSP00000405764.2:n.432+1133G>T
ENST00000524458.5:c.*258G>T	ENSP00000436195.1:n.*258G>T
ENST00000524907.5:n.615-50G>T
ENST00000525809.5:c.246-50G>T	ENSP00000431187.1:n.246-50G>T
ENST00000526035.5:c.*226-50G>T	ENSP00000434197.1:n.*226-50G>T
ENST00000526760.5:c.*226-50G>T	ENSP00000432140.1:n.*226-50G>T
ENST00000527251.5:c.*226-50G>T	ENSP00000434360.1:n.*226-50G>T
ENST00000528543.1:n.41-50G>T
ENST00000529766.5:n.526-50G>T
ENST00000529953.5:n.171-50G>T
ENST00000529955.5:n.490-50G>T
ENST00000532908.5:c.*179-50G>T	ENSP00000431866.1:n.*179-50G>T
ENST00000533430.5:n.297-50G>T
ENST00000533557.5:c.*179-50G>T	ENSP00000434619.1:n.*179-50G>T
ENST00000533644.5:c.472-50G>T	ENSP00000436073.1:n.472-50G>T
ENST00000534730.5:n.610G>T
ENST00000630659.2:c.*226-50G>T	ENSP00000486455.1:n.*226-50G>T
NM_024649.4:c.519-50G>T	NP_078925.3:n.519-50G>T
NM_024649.5:c.519-50G>T MANE Select	NP_078925.3:n.519-50G>T