Canonical Allele Identifier: CA6123433

Gene: BBS1

Linked Data

• ClinVar Variation Id: 402408
• ClinVar RCV Id: RCV000455067 ; RCV000726642 ; RCV001081824 ; RCV001107785 ; RCV003902629
• dbSNP Id: rs146052054
• ExAC: 11:66287112 T / G
• gnomAD v2: 11-66287112-T-G
• gnomAD v3: 11-66519641-T-G
• gnomAD v4: 11-66519641-T-G
• MyVariant Identifiers: chr11:g.66287112T>G (hg19) ; chr11:g.66519641T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519641T>G , CM000673.2:g.66519641T>G	GRCh38
NC_000011.9:g.66287112T>G , CM000673.1:g.66287112T>G	GRCh37
NC_000011.8:g.66043688T>G	NCBI36
NG_009093.1:g.13994T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.616T>G MANE Select	ENSP00000317469.7:p.Leu206Val
ENST00000318312.11:c.616T>G	ENSP00000317469.7:p.Leu206Val
ENST00000393994.4:c.616T>G	ENSP00000377563.2:p.Leu206Val
ENST00000419755.3:c.727T>G	ENSP00000398526.3:p.Leu243Val
ENST00000455748.6:c.433-1629T>G	ENSP00000405764.2:n.433-1629T>G
ENST00000524458.5:c.*405T>G	ENSP00000436195.1:n.*405T>G
ENST00000524907.5:n.712T>G
ENST00000525809.5:c.343T>G	ENSP00000431187.1:p.Leu115Val
ENST00000526035.5:c.*319T>G	ENSP00000434197.1:n.*319T>G
ENST00000526760.5:c.*323T>G	ENSP00000432140.1:n.*323T>G
ENST00000527251.5:c.*323T>G	ENSP00000434360.1:n.*323T>G
ENST00000528543.1:n.138T>G
ENST00000529766.5:n.623T>G
ENST00000529953.5:n.268T>G
ENST00000529955.5:n.587T>G
ENST00000532908.5:c.*276T>G	ENSP00000431866.1:n.*276T>G
ENST00000533430.5:n.394T>G
ENST00000533557.5:c.*276T>G	ENSP00000434619.1:n.*276T>G
ENST00000533644.5:c.*74T>G	ENSP00000436073.1:n.*74T>G
ENST00000630659.2:c.*323T>G	ENSP00000486455.1:n.*323T>G
NM_024649.4:c.616T>G	NP_078925.3:p.Leu206Val
NM_024649.5:c.616T>G MANE Select	NP_078925.3:p.Leu206Val