Canonical Allele Identifier: CA260181
Gene: BBS1 HGNC NCBI
COSMIC:
COSM4986453 (not active)
COSM4986454 (not active)
MyVariant.info:
GRCh38 chr11:g.66519725G>A
GRCh37 chr11:g.66287196G>A
Revel Score:
ENST00000419755 0.547
ENST00000318312 (MANE Select) 0.547
ENST00000537537 0.547
ENST00000525809 0.547
ENST00000393994 0.547
gnomAD v2:
11:66287196 G / A
gnomAD v3:
11:66519725 G / A
gnomAD v4:
chr11-66519725-G-A
Joint Max Group AF 0.10093652 (AFR)
Genomes Max Group AF 0.09932566 (AFR)
Exomes Max Group AF 0.10116744 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66519725G>A , CM000673.2:g.66519725G>A GRCh38
NC_000011.9:g.66287196G>A , CM000673.1:g.66287196G>A GRCh37
NC_000011.8:g.66043772G>A NCBI36
NG_009093.1:g.14078G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.700G>A MANE Select ENSP00000317469.7:p.Glu234Lys
ENST00000318312.11:c.700G>A ENSP00000317469.7:p.Glu234Lys
ENST00000393994.4:c.700G>A ENSP00000377563.2:p.Glu234Lys
ENST00000419755.3:c.811G>A ENSP00000398526.3:p.Glu271Lys
ENST00000455748.6:c.433-1545G>A ENSP00000405764.2:n.433-1545G>A
ENST00000524458.5:c.*489G>A ENSP00000436195.1:n.*489G>A
ENST00000524907.5:n.796G>A
ENST00000525809.5:c.427G>A ENSP00000431187.1:p.Glu143Lys
ENST00000526035.5:c.*403G>A ENSP00000434197.1:n.*403G>A
ENST00000526760.5:c.*407G>A ENSP00000432140.1:n.*407G>A
ENST00000527251.5:c.*407G>A ENSP00000434360.1:n.*407G>A
ENST00000528543.1:n.222G>A
ENST00000529766.5:n.707G>A
ENST00000529953.5:n.352G>A
ENST00000529955.5:n.671G>A
ENST00000532283.1:n.43G>A
ENST00000532908.5:c.*360G>A ENSP00000431866.1:n.*360G>A
ENST00000533430.5:n.478G>A
ENST00000533557.5:c.*360G>A ENSP00000434619.1:n.*360G>A
ENST00000533644.5:c.*158G>A ENSP00000436073.1:n.*158G>A
ENST00000630659.2:c.*407G>A ENSP00000486455.1:n.*407G>A
NM_024649.4:c.700G>A NP_078925.3:p.Glu234Lys
NM_024649.5:c.700G>A MANE Select NP_078925.3:p.Glu234Lys
Search 100 bp 5'
Search 100 bp 3'