Canonical Allele Identifier: CA1979716695

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514520T= , CM000673.2:g.66514520T=	GRCh38
NC_000011.9:g.66281991T= , CM000673.1:g.66281991T=	GRCh37
NC_000011.8:g.66038567T=	NCBI36
NG_009093.1:g.8873T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.274T= MANE Select	ENSP00000317469.7:p.Phe92=
ENST00000318312.11:c.274T=	ENSP00000317469.7:p.Phe92=
ENST00000393994.4:c.274T=	ENSP00000377563.2:p.Phe92=
ENST00000419755.3:c.385T=	ENSP00000398526.3:p.Phe129=
ENST00000455748.6:c.274T=	ENSP00000405764.2:p.Phe92=
ENST00000524458.5:c.149T=	ENSP00000436195.1:p.Leu50=
ENST00000524705.2:c.-6T=	ENSP00000436927.1:n.-6T=
ENST00000524907.5:n.264T=
ENST00000525809.5:c.160-1020T=	ENSP00000431187.1:n.160-1020T=
ENST00000526035.5:c.239T=	ENSP00000434197.1:p.Leu80=
ENST00000526760.5:c.239T=	ENSP00000432140.1:p.Leu80=
ENST00000527251.5:c.149T=	ENSP00000434360.1:p.Leu50=
ENST00000529766.5:n.281T=
ENST00000529955.5:n.292T=
ENST00000532908.5:c.239T=	ENSP00000431866.1:p.Leu80=
ENST00000533430.5:n.52T=
ENST00000533557.5:c.239T=	ENSP00000434619.1:p.Leu80=
ENST00000533644.5:c.274T=	ENSP00000436073.1:p.Phe92=
ENST00000534730.5:n.286T=
ENST00000630659.2:c.239T=	ENSP00000486455.1:p.Leu80=
NM_024649.4:c.274T=	NP_078925.3:p.Phe92=
NM_024649.5:c.274T= MANE Select	NP_078925.3:p.Phe92=