Canonical Allele Identifier: CA6123439

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519689G>C , CM000673.2:g.66519689G>C	GRCh38
NC_000011.9:g.66287160G>C , CM000673.1:g.66287160G>C	GRCh37
NC_000011.8:g.66043736G>C	NCBI36
NG_009093.1:g.14042G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.664G>C MANE Select	NP_078925.3:p.Gly222Arg
ENST00000318312.12:c.664G>C MANE Select	ENSP00000317469.7:p.Gly222Arg
NM_024649.4:c.664G>C	NP_078925.3:p.Gly222Arg
ENST00000318312.11:c.664G>C	ENSP00000317469.7:p.Gly222Arg
ENST00000393994.4:c.664G>C	ENSP00000377563.2:p.Gly222Arg
ENST00000419755.3:c.775G>C	ENSP00000398526.3:p.Gly259Arg
ENST00000455748.6:c.433-1581G>C	ENSP00000405764.2:n.433-1581G>C
ENST00000524458.5:c.*453G>C	ENSP00000436195.1:n.*453G>C
ENST00000524907.5:n.760G>C
ENST00000525809.5:c.391G>C	ENSP00000431187.1:p.Gly131Arg
ENST00000526035.5:c.*367G>C	ENSP00000434197.1:n.*367G>C
ENST00000526760.5:c.*371G>C	ENSP00000432140.1:n.*371G>C
ENST00000527251.5:c.*371G>C	ENSP00000434360.1:n.*371G>C
ENST00000528543.1:n.186G>C
ENST00000529766.5:n.671G>C
ENST00000529953.5:n.316G>C
ENST00000529955.5:n.635G>C
ENST00000532283.1:n.7G>C
ENST00000532908.5:c.*324G>C	ENSP00000431866.1:n.*324G>C
ENST00000533430.5:n.442G>C
ENST00000533557.5:c.*324G>C	ENSP00000434619.1:n.*324G>C
ENST00000533644.5:c.*122G>C	ENSP00000436073.1:n.*122G>C
ENST00000630659.2:c.*371G>C	ENSP00000486455.1:n.*371G>C