Canonical Allele Identifier: CA475368859

Gene: BBS1

Linked Data

• dbSNP Id: rs1856141534
• MyVariant Identifiers: chr11:g.66287177G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519706G>A , CM000673.2:g.66519706G>A	GRCh38
NC_000011.9:g.66287177G>A , CM000673.1:g.66287177G>A	GRCh37
NC_000011.8:g.66043753G>A	NCBI36
NG_009093.1:g.14059G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.681G>A MANE Select	ENSP00000317469.7:p.Glu227=
ENST00000318312.11:c.681G>A	ENSP00000317469.7:p.Glu227=
ENST00000393994.4:c.681G>A	ENSP00000377563.2:p.Glu227=
ENST00000419755.3:c.792G>A	ENSP00000398526.3:p.Glu264=
ENST00000455748.6:c.433-1564G>A	ENSP00000405764.2:n.433-1564G>A
ENST00000524458.5:c.*470G>A	ENSP00000436195.1:n.*470G>A
ENST00000524907.5:n.777G>A
ENST00000525809.5:c.408G>A	ENSP00000431187.1:p.Glu136=
ENST00000526035.5:c.*384G>A	ENSP00000434197.1:n.*384G>A
ENST00000526760.5:c.*388G>A	ENSP00000432140.1:n.*388G>A
ENST00000527251.5:c.*388G>A	ENSP00000434360.1:n.*388G>A
ENST00000528543.1:n.203G>A
ENST00000529766.5:n.688G>A
ENST00000529953.5:n.333G>A
ENST00000529955.5:n.652G>A
ENST00000532283.1:n.24G>A
ENST00000532908.5:c.*341G>A	ENSP00000431866.1:n.*341G>A
ENST00000533430.5:n.459G>A
ENST00000533557.5:c.*341G>A	ENSP00000434619.1:n.*341G>A
ENST00000533644.5:c.*139G>A	ENSP00000436073.1:n.*139G>A
ENST00000630659.2:c.*388G>A	ENSP00000486455.1:n.*388G>A
NM_024649.4:c.681G>A	NP_078925.3:p.Glu227=
NM_024649.5:c.681G>A MANE Select	NP_078925.3:p.Glu227=