Canonical Allele Identifier: CA381457401

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515694-G-A
• MyVariant Identifiers: chr11:g.66283165G>A (hg19) ; chr11:g.66515694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515694G>A , CM000673.2:g.66515694G>A	GRCh38
NC_000011.9:g.66283165G>A , CM000673.1:g.66283165G>A	GRCh37
NC_000011.8:g.66039741G>A	NCBI36
NG_009093.1:g.10047G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.481G>A MANE Select	ENSP00000317469.7:p.Glu161Lys
ENST00000318312.11:c.481G>A	ENSP00000317469.7:p.Glu161Lys
ENST00000393994.4:c.481G>A	ENSP00000377563.2:p.Glu161Lys
ENST00000419755.3:c.592G>A	ENSP00000398526.3:p.Glu198Lys
ENST00000455748.6:c.432+1016G>A	ENSP00000405764.2:n.432+1016G>A
ENST00000524458.5:c.*141G>A	ENSP00000436195.1:n.*141G>A
ENST00000524907.5:n.577G>A
ENST00000525809.5:c.208G>A	ENSP00000431187.1:p.Glu70Lys
ENST00000526035.5:c.*188G>A	ENSP00000434197.1:n.*188G>A
ENST00000526760.5:c.*188G>A	ENSP00000432140.1:n.*188G>A
ENST00000527251.5:c.*188G>A	ENSP00000434360.1:n.*188G>A
ENST00000528543.1:n.3G>A
ENST00000529766.5:n.488G>A
ENST00000529953.5:n.133G>A
ENST00000529955.5:n.452G>A
ENST00000532908.5:c.*141G>A	ENSP00000431866.1:n.*141G>A
ENST00000533430.5:n.259G>A
ENST00000533557.5:c.*141G>A	ENSP00000434619.1:n.*141G>A
ENST00000533644.5:c.434G>A	ENSP00000436073.1:p.Gly145Glu
ENST00000534730.5:n.493G>A
ENST00000630659.2:c.*188G>A	ENSP00000486455.1:n.*188G>A
NM_024649.4:c.481G>A	NP_078925.3:p.Glu161Lys
NM_024649.5:c.481G>A MANE Select	NP_078925.3:p.Glu161Lys