Canonical Allele Identifier: CA1979716584

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514470T= , CM000673.2:g.66514470T=	GRCh38
NC_000011.9:g.66281941T= , CM000673.1:g.66281941T=	GRCh37
NC_000011.8:g.66038517T=	NCBI36
NG_009093.1:g.8823T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.224T= MANE Select	ENSP00000317469.7:p.Leu75=
ENST00000318312.11:c.224T=	ENSP00000317469.7:p.Leu75=
ENST00000393994.4:c.224T=	ENSP00000377563.2:p.Leu75=
ENST00000419755.3:c.335T=	ENSP00000398526.3:p.Leu112=
ENST00000455748.6:c.224T=	ENSP00000405764.2:p.Leu75=
ENST00000524458.5:c.99T=	ENSP00000436195.1:p.Thr33=
ENST00000524705.2:c.-20-36T=	ENSP00000436927.1:n.-20-36T=
ENST00000524907.5:n.214T=
ENST00000525809.5:c.160-1070T=	ENSP00000431187.1:n.160-1070T=
ENST00000526035.5:c.189T=	ENSP00000434197.1:p.Thr63=
ENST00000526760.5:c.189T=	ENSP00000432140.1:p.Thr63=
ENST00000526815.5:c.134T=	ENSP00000436860.1:p.Leu45=
ENST00000527251.5:c.99T=	ENSP00000434360.1:p.Thr33=
ENST00000529766.5:n.231T=
ENST00000529955.5:n.242T=
ENST00000532908.5:c.189T=	ENSP00000431866.1:p.Thr63=
ENST00000533430.5:n.2T=
ENST00000533557.5:c.189T=	ENSP00000434619.1:p.Thr63=
ENST00000533644.5:c.224T=	ENSP00000436073.1:p.Leu75=
ENST00000534730.5:n.236T=
ENST00000630659.2:c.189T=	ENSP00000486455.1:p.Thr63=
NM_024649.4:c.224T=	NP_078925.3:p.Leu75=
NM_024649.5:c.224T= MANE Select	NP_078925.3:p.Leu75=