Canonical Allele Identifier: CA381455572

Gene: BBS1

Linked Data

• ClinVar Variation Id: 592062
• ClinVar RCV Id: RCV000723248 ; RCV001317094 ; RCV001825443
• dbSNP Id: rs1355873337
• gnomAD v3: 11-66514415-G-C
• gnomAD v4: 11-66514415-G-C
• MyVariant Identifiers: chr11:g.66281886G>C (hg19) ; chr11:g.66514415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514415G>C , CM000673.2:g.66514415G>C	GRCh38
NC_000011.9:g.66281886G>C , CM000673.1:g.66281886G>C	GRCh37
NC_000011.8:g.66038462G>C	NCBI36
NG_009093.1:g.8768G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.169G>C MANE Select	ENSP00000317469.7:p.Gly57Arg
ENST00000318312.11:c.169G>C	ENSP00000317469.7:p.Gly57Arg
ENST00000393994.4:c.169G>C	ENSP00000377563.2:p.Gly57Arg
ENST00000419755.3:c.280G>C	ENSP00000398526.3:p.Gly94Arg
ENST00000455748.6:c.169G>C	ENSP00000405764.2:p.Gly57Arg
ENST00000524458.5:c.44G>C	ENSP00000436195.1:p.Arg15Thr
ENST00000524705.2:c.-20-91G>C	ENSP00000436927.1:n.-20-91G>C
ENST00000524907.5:n.159G>C
ENST00000525809.5:c.160-1125G>C	ENSP00000431187.1:n.160-1125G>C
ENST00000526035.5:c.134G>C	ENSP00000434197.1:p.Arg45Thr
ENST00000526760.5:c.134G>C	ENSP00000432140.1:p.Arg45Thr
ENST00000526815.5:c.79G>C	ENSP00000436860.1:p.Gly27Arg
ENST00000527251.5:c.44G>C	ENSP00000434360.1:p.Arg15Thr
ENST00000529766.5:n.176G>C
ENST00000529955.5:n.187G>C
ENST00000532908.5:c.134G>C	ENSP00000431866.1:p.Arg45Thr
ENST00000533557.5:c.134G>C	ENSP00000434619.1:p.Arg45Thr
ENST00000533644.5:c.169G>C	ENSP00000436073.1:p.Gly57Arg
ENST00000534730.5:n.181G>C
ENST00000630659.2:c.134G>C	ENSP00000486455.1:p.Arg45Thr
NM_024649.4:c.169G>C	NP_078925.3:p.Gly57Arg
NM_024649.5:c.169G>C MANE Select	NP_078925.3:p.Gly57Arg