Canonical Allele Identifier: CA1979718984

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515893C= , CM000673.2:g.66515893C=	GRCh38
NC_000011.9:g.66283364C= , CM000673.1:g.66283364C=	GRCh37
NC_000011.8:g.66039940C=	NCBI36
NG_009093.1:g.10246C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.551C= MANE Select	ENSP00000317469.7:p.Ala184=
ENST00000318312.11:c.551C=	ENSP00000317469.7:p.Ala184=
ENST00000393994.4:c.551C=	ENSP00000377563.2:p.Ala184=
ENST00000419755.3:c.662C=	ENSP00000398526.3:p.Ala221=
ENST00000455748.6:c.432+1215C=	ENSP00000405764.2:n.432+1215C=
ENST00000524458.5:c.*340C=	ENSP00000436195.1:n.*340C=
ENST00000524907.5:n.647C=
ENST00000525809.5:c.278C=	ENSP00000431187.1:p.Ala93=
ENST00000526035.5:c.*258C=	ENSP00000434197.1:n.*258C=
ENST00000526760.5:c.*258C=	ENSP00000432140.1:n.*258C=
ENST00000527251.5:c.*258C=	ENSP00000434360.1:n.*258C=
ENST00000528543.1:n.73C=
ENST00000529766.5:n.558C=
ENST00000529953.5:n.203C=
ENST00000529955.5:n.522C=
ENST00000532908.5:c.*211C=	ENSP00000431866.1:n.*211C=
ENST00000533430.5:n.329C=
ENST00000533557.5:c.*211C=	ENSP00000434619.1:n.*211C=
ENST00000533644.5:c.*9C=	ENSP00000436073.1:n.*9C=
ENST00000630659.2:c.*258C=	ENSP00000486455.1:n.*258C=
NM_024649.4:c.551C=	NP_078925.3:p.Ala184=
NM_024649.5:c.551C= MANE Select	NP_078925.3:p.Ala184=