Canonical Allele Identifier: CA16041522
Gene: BBS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371003
ClinVar RCV Id: RCV000409654

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66515692G>C , CM000673.2:g.66515692G>C GRCh38
NC_000011.9:g.66283163G>C , CM000673.1:g.66283163G>C GRCh37
NC_000011.8:g.66039739G>C NCBI36
NG_009093.1:g.10045G>C

Transcript Alleles

HGVS Amino-acid change
NM_024649.4:c.480-1G>C VV NP_078925.3:p.=
NM_024649.5:c.480-1G>C VV MANE Preferred
ENST00000318312.11:c.480-1G>C ENSP00000317469.7:p.=
ENST00000393994.4:c.480-1G>C ENSP00000377563.2:p.=
ENST00000419755.3:c.591-1G>C ENSP00000398526.3:p.=
ENST00000455748.6:c.432+1014G>C ENSP00000405764.2:p.=
ENST00000524458.5:c.*140-1G>C ENSP00000436195.1:p.=
ENST00000524907.5:n.575G>C
ENST00000525809.5:c.207-1G>C ENSP00000431187.1:p.=
ENST00000526035.5:c.*187-1G>C ENSP00000434197.1:p.=
ENST00000526760.5:c.*187-1G>C ENSP00000432140.1:p.=
ENST00000527251.5:c.*187-1G>C ENSP00000434360.1:p.=
ENST00000528543.1:n.1G>C
ENST00000529766.5:n.487-1G>C
ENST00000529953.5:n.132-1G>C
ENST00000529955.5:n.451-1G>C
ENST00000532908.5:c.*140-1G>C ENSP00000431866.1:p.=
ENST00000533430.5:n.258-1G>C
ENST00000533557.5:c.*140-1G>C ENSP00000434619.1:p.=
ENST00000533644.5:c.433-1G>C ENSP00000436073.1:p.=
ENST00000534730.5:n.492-1G>C
ENST00000630659.2:c.*187-1G>C ENSP00000486455.1:p.=