Canonical Allele Identifier: CA1979718389

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515565A= , CM000673.2:g.66515565A=	GRCh38
NC_000011.9:g.66283036A= , CM000673.1:g.66283036A=	GRCh37
NC_000011.8:g.66039612A=	NCBI36
NG_009093.1:g.9918A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.458A= MANE Select	ENSP00000317469.7:p.Lys153=
ENST00000318312.11:c.458A=	ENSP00000317469.7:p.Lys153=
ENST00000393994.4:c.458A=	ENSP00000377563.2:p.Lys153=
ENST00000419755.3:c.569A=	ENSP00000398526.3:p.Lys190=
ENST00000455748.6:c.432+887A=	ENSP00000405764.2:n.432+887A=
ENST00000524458.5:c.*140-128A=	ENSP00000436195.1:n.*140-128A=
ENST00000524705.2:c.179A=	ENSP00000436927.1:p.Lys60=
ENST00000524907.5:n.448A=
ENST00000525809.5:c.185A=	ENSP00000431187.1:p.Lys62=
ENST00000526035.5:c.*165A=	ENSP00000434197.1:n.*165A=
ENST00000526760.5:c.*165A=	ENSP00000432140.1:n.*165A=
ENST00000527251.5:c.*165A=	ENSP00000434360.1:n.*165A=
ENST00000529766.5:n.465A=
ENST00000529953.5:n.110A=
ENST00000529955.5:n.451-128A=
ENST00000532908.5:c.*140-128A=	ENSP00000431866.1:n.*140-128A=
ENST00000533430.5:n.236A=
ENST00000533557.5:c.*140-128A=	ENSP00000434619.1:n.*140-128A=
ENST00000533644.5:c.433-128A=	ENSP00000436073.1:n.433-128A=
ENST00000534730.5:n.470A=
ENST00000630659.2:c.*165A=	ENSP00000486455.1:n.*165A=
NM_024649.4:c.458A=	NP_078925.3:p.Lys153=
NM_024649.5:c.458A= MANE Select	NP_078925.3:p.Lys153=