Canonical Allele Identifier: CA475368433

Gene: BBS1

Linked Data

• dbSNP Id: rs1856031426
• gnomAD v3: 11-66515566-G-A
• gnomAD v4: 11-66515566-G-A
• MyVariant Identifiers: chr11:g.66283037G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515566G>A , CM000673.2:g.66515566G>A	GRCh38
NC_000011.9:g.66283037G>A , CM000673.1:g.66283037G>A	GRCh37
NC_000011.8:g.66039613G>A	NCBI36
NG_009093.1:g.9919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.459G>A MANE Select	ENSP00000317469.7:p.Lys153=
ENST00000318312.11:c.459G>A	ENSP00000317469.7:p.Lys153=
ENST00000393994.4:c.459G>A	ENSP00000377563.2:p.Lys153=
ENST00000419755.3:c.570G>A	ENSP00000398526.3:p.Lys190=
ENST00000455748.6:c.432+888G>A	ENSP00000405764.2:n.432+888G>A
ENST00000524458.5:c.*140-127G>A	ENSP00000436195.1:n.*140-127G>A
ENST00000524705.2:c.180G>A	ENSP00000436927.1:p.Lys60=
ENST00000524907.5:n.449G>A
ENST00000525809.5:c.186G>A	ENSP00000431187.1:p.Lys62=
ENST00000526035.5:c.*166G>A	ENSP00000434197.1:n.*166G>A
ENST00000526760.5:c.*166G>A	ENSP00000432140.1:n.*166G>A
ENST00000527251.5:c.*166G>A	ENSP00000434360.1:n.*166G>A
ENST00000529766.5:n.466G>A
ENST00000529953.5:n.111G>A
ENST00000529955.5:n.451-127G>A
ENST00000532908.5:c.*140-127G>A	ENSP00000431866.1:n.*140-127G>A
ENST00000533430.5:n.237G>A
ENST00000533557.5:c.*140-127G>A	ENSP00000434619.1:n.*140-127G>A
ENST00000533644.5:c.433-127G>A	ENSP00000436073.1:n.433-127G>A
ENST00000534730.5:n.471G>A
ENST00000630659.2:c.*166G>A	ENSP00000486455.1:n.*166G>A
NM_024649.4:c.459G>A	NP_078925.3:p.Lys153=
NM_024649.5:c.459G>A MANE Select	NP_078925.3:p.Lys153=