Canonical Allele Identifier: CA10582948
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 241521
dbSNP Id: rs878855095

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514662G>A , CM000673.2:g.66514662G>A GRCh38
NC_000011.9:g.66282133G>A , CM000673.1:g.66282133G>A GRCh37
NC_000011.8:g.66038709G>A NCBI36
NG_009093.1:g.9015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.416G>A MANE Select ENSP00000317469.7:p.Trp139Ter
ENST00000318312.11:c.416G>A ENSP00000317469.7:p.Trp139Ter
ENST00000393994.4:c.416G>A ENSP00000377563.2:p.Trp139Ter
ENST00000419755.3:c.527G>A ENSP00000398526.3:p.Trp176Ter
ENST00000455748.6:c.416G>A ENSP00000405764.2:p.Trp139Ter
ENST00000524458.5:c.*123G>A ENSP00000436195.1:n.*123G>A
ENST00000524705.2:c.137G>A ENSP00000436927.1:p.Trp46Ter
ENST00000524907.5:n.406G>A
ENST00000525809.5:c.160-878G>A ENSP00000431187.1:n.160-878G>A
ENST00000526035.5:c.*123G>A ENSP00000434197.1:n.*123G>A
ENST00000526760.5:c.*123G>A ENSP00000432140.1:n.*123G>A
ENST00000527251.5:c.*123G>A ENSP00000434360.1:n.*123G>A
ENST00000529766.5:n.423G>A
ENST00000529953.5:n.68G>A
ENST00000529955.5:n.434G>A
ENST00000532908.5:c.*123G>A ENSP00000431866.1:n.*123G>A
ENST00000533430.5:n.194G>A
ENST00000533557.5:c.*123G>A ENSP00000434619.1:n.*123G>A
ENST00000533644.5:c.416G>A ENSP00000436073.1:p.Trp139Ter
ENST00000534730.5:n.428G>A
ENST00000630659.2:c.*123G>A ENSP00000486455.1:n.*123G>A
NM_024649.4:c.416G>A NP_078925.3:p.Trp139Ter
NM_024649.5:c.416G>A MANE Select NP_078925.3:p.Trp139Ter