Canonical Allele Identifier: CA1979718419

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515585C= , CM000673.2:g.66515585C=	GRCh38
NC_000011.9:g.66283056C= , CM000673.1:g.66283056C=	GRCh37
NC_000011.8:g.66039632C=	NCBI36
NG_009093.1:g.9938C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.478C= MANE Select	ENSP00000317469.7:p.Arg160=
ENST00000318312.11:c.478C=	ENSP00000317469.7:p.Arg160=
ENST00000393994.4:c.478C=	ENSP00000377563.2:p.Arg160=
ENST00000419755.3:c.589C=	ENSP00000398526.3:p.Arg197=
ENST00000455748.6:c.432+907C=	ENSP00000405764.2:n.432+907C=
ENST00000524458.5:c.*140-108C=	ENSP00000436195.1:n.*140-108C=
ENST00000524705.2:c.199C=
ENST00000524907.5:n.468C=
ENST00000525809.5:c.205C=	ENSP00000431187.1:p.Arg69=
ENST00000526035.5:c.*185C=	ENSP00000434197.1:n.*185C=
ENST00000526760.5:c.*185C=	ENSP00000432140.1:n.*185C=
ENST00000527251.5:c.*185C=	ENSP00000434360.1:n.*185C=
ENST00000529766.5:n.485C=
ENST00000529953.5:n.130C=
ENST00000529955.5:n.451-108C=
ENST00000532908.5:c.*140-108C=	ENSP00000431866.1:n.*140-108C=
ENST00000533430.5:n.256C=
ENST00000533557.5:c.*140-108C=	ENSP00000434619.1:n.*140-108C=
ENST00000533644.5:c.433-108C=	ENSP00000436073.1:n.433-108C=
ENST00000534730.5:n.490C=
ENST00000630659.2:c.*185C=	ENSP00000486455.1:n.*185C=
NM_024649.4:c.478C=	NP_078925.3:p.Arg160=
NM_024649.5:c.478C= MANE Select	NP_078925.3:p.Arg160=