Canonical Allele Identifier: CA1979717000

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514663G= , CM000673.2:g.66514663G=	GRCh38
NC_000011.9:g.66282134G= , CM000673.1:g.66282134G=	GRCh37
NC_000011.8:g.66038710G=	NCBI36
NG_009093.1:g.9016G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.417G= MANE Select	ENSP00000317469.7:p.Trp139=
ENST00000318312.11:c.417G=	ENSP00000317469.7:p.Trp139=
ENST00000393994.4:c.417G=	ENSP00000377563.2:p.Trp139=
ENST00000419755.3:c.528G=	ENSP00000398526.3:p.Trp176=
ENST00000455748.6:c.417G=	ENSP00000405764.2:p.Trp139=
ENST00000524458.5:c.*124G=	ENSP00000436195.1:n.*124G=
ENST00000524705.2:c.138G=	ENSP00000436927.1:p.Trp46=
ENST00000524907.5:n.407G=
ENST00000525809.5:c.160-877G=	ENSP00000431187.1:n.160-877G=
ENST00000526035.5:c.*124G=	ENSP00000434197.1:n.*124G=
ENST00000526760.5:c.*124G=	ENSP00000432140.1:n.*124G=
ENST00000527251.5:c.*124G=	ENSP00000434360.1:n.*124G=
ENST00000529766.5:n.424G=
ENST00000529953.5:n.69G=
ENST00000529955.5:n.435G=
ENST00000532908.5:c.*124G=	ENSP00000431866.1:n.*124G=
ENST00000533430.5:n.195G=
ENST00000533557.5:c.*124G=	ENSP00000434619.1:n.*124G=
ENST00000533644.5:c.417G=	ENSP00000436073.1:p.Trp139=
ENST00000534730.5:n.429G=
ENST00000630659.2:c.*124G=	ENSP00000486455.1:n.*124G=
NM_024649.4:c.417G=	NP_078925.3:p.Trp139=
NM_024649.5:c.417G= MANE Select	NP_078925.3:p.Trp139=