Canonical Allele Identifier: CA224073291

Gene: BBS1

Linked Data

• dbSNP Id: rs1057468459
• gnomAD v3: 11-66514673-A-G
• gnomAD v4: 11-66514673-A-G
• MyVariant Identifiers: chr11:g.66282144A>G (hg19) ; chr11:g.66514673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514673A>G , CM000673.2:g.66514673A>G	GRCh38
NC_000011.9:g.66282144A>G , CM000673.1:g.66282144A>G	GRCh37
NC_000011.8:g.66038720A>G	NCBI36
NG_009093.1:g.9026A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.427A>G MANE Select	ENSP00000317469.7:p.Lys143Glu
ENST00000318312.11:c.427A>G	ENSP00000317469.7:p.Lys143Glu
ENST00000393994.4:c.427A>G	ENSP00000377563.2:p.Lys143Glu
ENST00000419755.3:c.538A>G	ENSP00000398526.3:p.Lys180Glu
ENST00000455748.6:c.427A>G	ENSP00000405764.2:p.Lys143Glu
ENST00000524458.5:c.*134A>G	ENSP00000436195.1:n.*134A>G
ENST00000524705.2:c.148A>G	ENSP00000436927.1:p.Lys50Glu
ENST00000524907.5:n.417A>G
ENST00000525809.5:c.160-867A>G	ENSP00000431187.1:n.160-867A>G
ENST00000526035.5:c.*134A>G	ENSP00000434197.1:n.*134A>G
ENST00000526760.5:c.*134A>G	ENSP00000432140.1:n.*134A>G
ENST00000527251.5:c.*134A>G	ENSP00000434360.1:n.*134A>G
ENST00000529766.5:n.434A>G
ENST00000529953.5:n.79A>G
ENST00000529955.5:n.445A>G
ENST00000532908.5:c.*134A>G	ENSP00000431866.1:n.*134A>G
ENST00000533430.5:n.205A>G
ENST00000533557.5:c.*134A>G	ENSP00000434619.1:n.*134A>G
ENST00000533644.5:c.427A>G	ENSP00000436073.1:p.Lys143Glu
ENST00000534730.5:n.439A>G
ENST00000630659.2:c.*134A>G	ENSP00000486455.1:n.*134A>G
NM_024649.4:c.427A>G	NP_078925.3:p.Lys143Glu
NM_024649.5:c.427A>G MANE Select	NP_078925.3:p.Lys143Glu