Canonical Allele Identifier: CA599875435

Gene: BBS1

Linked Data

• dbSNP Id: rs1477576360
• gnomAD v2: 11-66283089-T-C
• gnomAD v4: 11-66515618-T-C
• MyVariant Identifiers: chr11:g.66283089T>C (hg19) ; chr11:g.66515618T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515618T>C , CM000673.2:g.66515618T>C	GRCh38
NC_000011.9:g.66283089T>C , CM000673.1:g.66283089T>C	GRCh37
NC_000011.8:g.66039665T>C	NCBI36
NG_009093.1:g.9971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.479+32T>C MANE Select	ENSP00000317469.7:n.479+32T>C
ENST00000318312.11:c.479+32T>C	ENSP00000317469.7:n.479+32T>C
ENST00000393994.4:c.479+32T>C	ENSP00000377563.2:n.479+32T>C
ENST00000419755.3:c.590+32T>C	ENSP00000398526.3:n.590+32T>C
ENST00000455748.6:c.432+940T>C	ENSP00000405764.2:n.432+940T>C
ENST00000524458.5:c.*140-75T>C	ENSP00000436195.1:n.*140-75T>C
ENST00000524907.5:n.501T>C
ENST00000525809.5:c.206+32T>C	ENSP00000431187.1:n.206+32T>C
ENST00000526035.5:c.*186+32T>C	ENSP00000434197.1:n.*186+32T>C
ENST00000526760.5:c.*186+32T>C	ENSP00000432140.1:n.*186+32T>C
ENST00000527251.5:c.*186+32T>C	ENSP00000434360.1:n.*186+32T>C
ENST00000529766.5:n.486+32T>C
ENST00000529953.5:n.131+32T>C
ENST00000529955.5:n.451-75T>C
ENST00000532908.5:c.*140-75T>C	ENSP00000431866.1:n.*140-75T>C
ENST00000533430.5:n.257+32T>C
ENST00000533557.5:c.*140-75T>C	ENSP00000434619.1:n.*140-75T>C
ENST00000533644.5:c.433-75T>C	ENSP00000436073.1:n.433-75T>C
ENST00000534730.5:n.491+32T>C
ENST00000630659.2:c.*186+32T>C	ENSP00000486455.1:n.*186+32T>C
NM_024649.4:c.479+32T>C	NP_078925.3:n.479+32T>C
NM_024649.5:c.479+32T>C MANE Select	NP_078925.3:n.479+32T>C