Canonical Allele Identifier: CA6123306

Gene: BBS1

Linked Data

• ClinVar Variation Id: 382262
• ClinVar RCV Id: RCV000425171 ; RCV001833533 ; RCV003889888
• dbSNP Id: rs750288768
• ExAC: 11:66282046 C / A
• gnomAD v2: 11-66282046-C-A
• gnomAD v4: 11-66514575-C-A
• MyVariant Identifiers: chr11:g.66282046C>A (hg19) ; chr11:g.66514575C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514575C>A , CM000673.2:g.66514575C>A	GRCh38
NC_000011.9:g.66282046C>A , CM000673.1:g.66282046C>A	GRCh37
NC_000011.8:g.66038622C>A	NCBI36
NG_009093.1:g.8928C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.329C>A MANE Select	ENSP00000317469.7:p.Pro110His
ENST00000318312.11:c.329C>A	ENSP00000317469.7:p.Pro110His
ENST00000393994.4:c.329C>A	ENSP00000377563.2:p.Pro110His
ENST00000419755.3:c.440C>A	ENSP00000398526.3:p.Pro147His
ENST00000455748.6:c.329C>A	ENSP00000405764.2:p.Pro110His
ENST00000524458.5:c.*36C>A	ENSP00000436195.1:n.*36C>A
ENST00000524705.2:c.50C>A	ENSP00000436927.1:p.Pro17His
ENST00000524907.5:n.319C>A
ENST00000525809.5:c.160-965C>A	ENSP00000431187.1:n.160-965C>A
ENST00000526035.5:c.*36C>A	ENSP00000434197.1:n.*36C>A
ENST00000526760.5:c.*36C>A	ENSP00000432140.1:n.*36C>A
ENST00000527251.5:c.*36C>A	ENSP00000434360.1:n.*36C>A
ENST00000529766.5:n.336C>A
ENST00000529955.5:n.347C>A
ENST00000532908.5:c.*36C>A	ENSP00000431866.1:n.*36C>A
ENST00000533430.5:n.107C>A
ENST00000533557.5:c.*36C>A	ENSP00000434619.1:n.*36C>A
ENST00000533644.5:c.329C>A	ENSP00000436073.1:p.Pro110His
ENST00000534730.5:n.341C>A
ENST00000630659.2:c.*36C>A	ENSP00000486455.1:n.*36C>A
NM_024649.4:c.329C>A	NP_078925.3:p.Pro110His
NM_024649.5:c.329C>A MANE Select	NP_078925.3:p.Pro110His