Canonical Allele Identifier: CA6123425

Gene: BBS1

Linked Data

• ClinVar Variation Id: 2190751
• ClinVar RCV Id: RCV002616551
• dbSNP Id: rs778903752
• ExAC: 11:66287068 C / T
• gnomAD v2: 11-66287068-C-T
• gnomAD v4: 11-66519597-C-T
• MyVariant Identifiers: chr11:g.66287068C>T (hg19) ; chr11:g.66519597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519597C>T , CM000673.2:g.66519597C>T	GRCh38
NC_000011.9:g.66287068C>T , CM000673.1:g.66287068C>T	GRCh37
NC_000011.8:g.66043644C>T	NCBI36
NG_009093.1:g.13950C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.592-20C>T MANE Select	ENSP00000317469.7:n.592-20C>T
ENST00000318312.11:c.592-20C>T	ENSP00000317469.7:n.592-20C>T
ENST00000393994.4:c.592-20C>T	ENSP00000377563.2:n.592-20C>T
ENST00000419755.3:c.703-20C>T	ENSP00000398526.3:n.703-20C>T
ENST00000455748.6:c.433-1673C>T	ENSP00000405764.2:n.433-1673C>T
ENST00000524458.5:c.*381-20C>T	ENSP00000436195.1:n.*381-20C>T
ENST00000524907.5:n.688-20C>T
ENST00000525809.5:c.319-20C>T	ENSP00000431187.1:n.319-20C>T
ENST00000526035.5:c.*299-24C>T	ENSP00000434197.1:n.*299-24C>T
ENST00000526760.5:c.*299-20C>T	ENSP00000432140.1:n.*299-20C>T
ENST00000527251.5:c.*299-20C>T	ENSP00000434360.1:n.*299-20C>T
ENST00000528543.1:n.114-20C>T
ENST00000529766.5:n.599-20C>T
ENST00000529953.5:n.244-20C>T
ENST00000529955.5:n.563-20C>T
ENST00000532908.5:c.*252-20C>T	ENSP00000431866.1:n.*252-20C>T
ENST00000533430.5:n.370-20C>T
ENST00000533557.5:c.*252-20C>T	ENSP00000434619.1:n.*252-20C>T
ENST00000533644.5:c.*50-20C>T	ENSP00000436073.1:n.*50-20C>T
ENST00000630659.2:c.*299-20C>T	ENSP00000486455.1:n.*299-20C>T
NM_024649.4:c.592-20C>T	NP_078925.3:n.592-20C>T
NM_024649.5:c.592-20C>T MANE Select	NP_078925.3:n.592-20C>T