Canonical Allele Identifier: CA1979718956

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515878T= , CM000673.2:g.66515878T=	GRCh38
NC_000011.9:g.66283349T= , CM000673.1:g.66283349T=	GRCh37
NC_000011.8:g.66039925T=	NCBI36
NG_009093.1:g.10231T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.536T= MANE Select	ENSP00000317469.7:p.Leu179=
ENST00000318312.11:c.536T=	ENSP00000317469.7:p.Leu179=
ENST00000393994.4:c.536T=	ENSP00000377563.2:p.Leu179=
ENST00000419755.3:c.647T=	ENSP00000398526.3:p.Leu216=
ENST00000455748.6:c.432+1200T=	ENSP00000405764.2:n.432+1200T=
ENST00000524458.5:c.*325T=	ENSP00000436195.1:n.*325T=
ENST00000524907.5:n.632T=
ENST00000525809.5:c.263T=	ENSP00000431187.1:p.Leu88=
ENST00000526035.5:c.*243T=	ENSP00000434197.1:n.*243T=
ENST00000526760.5:c.*243T=	ENSP00000432140.1:n.*243T=
ENST00000527251.5:c.*243T=	ENSP00000434360.1:n.*243T=
ENST00000528543.1:n.58T=
ENST00000529766.5:n.543T=
ENST00000529953.5:n.188T=
ENST00000529955.5:n.507T=
ENST00000532908.5:c.*196T=	ENSP00000431866.1:n.*196T=
ENST00000533430.5:n.314T=
ENST00000533557.5:c.*196T=	ENSP00000434619.1:n.*196T=
ENST00000533644.5:c.489T=	ENSP00000436073.1:p.Ala163=
ENST00000630659.2:c.*243T=	ENSP00000486455.1:n.*243T=
NM_024649.4:c.536T=	NP_078925.3:p.Leu179=
NM_024649.5:c.536T= MANE Select	NP_078925.3:p.Leu179=