Canonical Allele Identifier: CA6123305

Gene: BBS1

Linked Data

• dbSNP Id: rs369311781
• ExAC: 11:66282039 T / G
• gnomAD v2: 11-66282039-T-G
• gnomAD v3: 11-66514568-T-G
• gnomAD v4: 11-66514568-T-G
• MyVariant Identifiers: chr11:g.66282039T>G (hg19) ; chr11:g.66514568T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514568T>G , CM000673.2:g.66514568T>G	GRCh38
NC_000011.9:g.66282039T>G , CM000673.1:g.66282039T>G	GRCh37
NC_000011.8:g.66038615T>G	NCBI36
NG_009093.1:g.8921T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.322T>G MANE Select	ENSP00000317469.7:p.Ser108Ala
ENST00000318312.11:c.322T>G	ENSP00000317469.7:p.Ser108Ala
ENST00000393994.4:c.322T>G	ENSP00000377563.2:p.Ser108Ala
ENST00000419755.3:c.433T>G	ENSP00000398526.3:p.Ser145Ala
ENST00000455748.6:c.322T>G	ENSP00000405764.2:p.Ser108Ala
ENST00000524458.5:c.*29T>G	ENSP00000436195.1:n.*29T>G
ENST00000524705.2:c.43T>G	ENSP00000436927.1:p.Ser15Ala
ENST00000524907.5:n.312T>G
ENST00000525809.5:c.160-972T>G	ENSP00000431187.1:n.160-972T>G
ENST00000526035.5:c.*29T>G	ENSP00000434197.1:n.*29T>G
ENST00000526760.5:c.*29T>G	ENSP00000432140.1:n.*29T>G
ENST00000527251.5:c.*29T>G	ENSP00000434360.1:n.*29T>G
ENST00000529766.5:n.329T>G
ENST00000529955.5:n.340T>G
ENST00000532908.5:c.*29T>G	ENSP00000431866.1:n.*29T>G
ENST00000533430.5:n.100T>G
ENST00000533557.5:c.*29T>G	ENSP00000434619.1:n.*29T>G
ENST00000533644.5:c.322T>G	ENSP00000436073.1:p.Ser108Ala
ENST00000534730.5:n.334T>G
ENST00000630659.2:c.*29T>G	ENSP00000486455.1:n.*29T>G
NM_024649.4:c.322T>G	NP_078925.3:p.Ser108Ala
NM_024649.5:c.322T>G MANE Select	NP_078925.3:p.Ser108Ala