Canonical Allele Identifier: CA381457528

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283349T>A (hg19) ; chr11:g.66515878T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515878T>A , CM000673.2:g.66515878T>A	GRCh38
NC_000011.9:g.66283349T>A , CM000673.1:g.66283349T>A	GRCh37
NC_000011.8:g.66039925T>A	NCBI36
NG_009093.1:g.10231T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.536T>A MANE Select	ENSP00000317469.7:p.Leu179Gln
ENST00000318312.11:c.536T>A	ENSP00000317469.7:p.Leu179Gln
ENST00000393994.4:c.536T>A	ENSP00000377563.2:p.Leu179Gln
ENST00000419755.3:c.647T>A	ENSP00000398526.3:p.Leu216Gln
ENST00000455748.6:c.432+1200T>A	ENSP00000405764.2:n.432+1200T>A
ENST00000524458.5:c.*325T>A	ENSP00000436195.1:n.*325T>A
ENST00000524907.5:n.632T>A
ENST00000525809.5:c.263T>A	ENSP00000431187.1:p.Leu88Gln
ENST00000526035.5:c.*243T>A	ENSP00000434197.1:n.*243T>A
ENST00000526760.5:c.*243T>A	ENSP00000432140.1:n.*243T>A
ENST00000527251.5:c.*243T>A	ENSP00000434360.1:n.*243T>A
ENST00000528543.1:n.58T>A
ENST00000529766.5:n.543T>A
ENST00000529953.5:n.188T>A
ENST00000529955.5:n.507T>A
ENST00000532908.5:c.*196T>A	ENSP00000431866.1:n.*196T>A
ENST00000533430.5:n.314T>A
ENST00000533557.5:c.*196T>A	ENSP00000434619.1:n.*196T>A
ENST00000533644.5:c.489T>A	ENSP00000436073.1:p.Ala163=
ENST00000630659.2:c.*243T>A	ENSP00000486455.1:n.*243T>A
NM_024649.4:c.536T>A	NP_078925.3:p.Leu179Gln
NM_024649.5:c.536T>A MANE Select	NP_078925.3:p.Leu179Gln