Canonical Allele Identifier: CA1979718718

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515716C= , CM000673.2:g.66515716C=	GRCh38
NC_000011.9:g.66283187C= , CM000673.1:g.66283187C=	GRCh37
NC_000011.8:g.66039763C=	NCBI36
NG_009093.1:g.10069C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.503C= MANE Select	ENSP00000317469.7:p.Ser168=
ENST00000318312.11:c.503C=	ENSP00000317469.7:p.Ser168=
ENST00000393994.4:c.503C=	ENSP00000377563.2:p.Ser168=
ENST00000419755.3:c.614C=	ENSP00000398526.3:p.Ser205=
ENST00000455748.6:c.432+1038C=	ENSP00000405764.2:n.432+1038C=
ENST00000524458.5:c.*163C=	ENSP00000436195.1:n.*163C=
ENST00000524907.5:n.599C=
ENST00000525809.5:c.230C=	ENSP00000431187.1:p.Ser77=
ENST00000526035.5:c.*210C=	ENSP00000434197.1:n.*210C=
ENST00000526760.5:c.*210C=	ENSP00000432140.1:n.*210C=
ENST00000527251.5:c.*210C=	ENSP00000434360.1:n.*210C=
ENST00000528543.1:n.25C=
ENST00000529766.5:n.510C=
ENST00000529953.5:n.155C=
ENST00000529955.5:n.474C=
ENST00000532908.5:c.*163C=	ENSP00000431866.1:n.*163C=
ENST00000533430.5:n.281C=
ENST00000533557.5:c.*163C=	ENSP00000434619.1:n.*163C=
ENST00000533644.5:c.456C=	ENSP00000436073.1:p.Val152=
ENST00000534730.5:n.515C=
ENST00000630659.2:c.*210C=	ENSP00000486455.1:n.*210C=
NM_024649.4:c.503C=	NP_078925.3:p.Ser168=
NM_024649.5:c.503C= MANE Select	NP_078925.3:p.Ser168=