Canonical Allele Identifier: CA1979718674

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515696G= , CM000673.2:g.66515696G=	GRCh38
NC_000011.9:g.66283167G= , CM000673.1:g.66283167G=	GRCh37
NC_000011.8:g.66039743G=	NCBI36
NG_009093.1:g.10049G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.483G= MANE Select	ENSP00000317469.7:p.Glu161=
ENST00000318312.11:c.483G=	ENSP00000317469.7:p.Glu161=
ENST00000393994.4:c.483G=	ENSP00000377563.2:p.Glu161=
ENST00000419755.3:c.594G=	ENSP00000398526.3:p.Glu198=
ENST00000455748.6:c.432+1018G=	ENSP00000405764.2:n.432+1018G=
ENST00000524458.5:c.*143G=	ENSP00000436195.1:n.*143G=
ENST00000524907.5:n.579G=
ENST00000525809.5:c.210G=	ENSP00000431187.1:p.Glu70=
ENST00000526035.5:c.*190G=	ENSP00000434197.1:n.*190G=
ENST00000526760.5:c.*190G=	ENSP00000432140.1:n.*190G=
ENST00000527251.5:c.*190G=	ENSP00000434360.1:n.*190G=
ENST00000528543.1:n.5G=
ENST00000529766.5:n.490G=
ENST00000529953.5:n.135G=
ENST00000529955.5:n.454G=
ENST00000532908.5:c.*143G=	ENSP00000431866.1:n.*143G=
ENST00000533430.5:n.261G=
ENST00000533557.5:c.*143G=	ENSP00000434619.1:n.*143G=
ENST00000533644.5:c.436G=	ENSP00000436073.1:p.Asp146=
ENST00000534730.5:n.495G=
ENST00000630659.2:c.*190G=	ENSP00000486455.1:n.*190G=
NM_024649.4:c.483G=	NP_078925.3:p.Glu161=
NM_024649.5:c.483G= MANE Select	NP_078925.3:p.Glu161=