Canonical Allele Identifier: CA224073750

Gene: BBS1

Linked Data

• dbSNP Id: rs200052384
• gnomAD v2: 11-66283088-C-A
• gnomAD v4: 11-66515617-C-A
• MyVariant Identifiers: chr11:g.66283088C>A (hg19) ; chr11:g.66515617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515617C>A , CM000673.2:g.66515617C>A	GRCh38
NC_000011.9:g.66283088C>A , CM000673.1:g.66283088C>A	GRCh37
NC_000011.8:g.66039664C>A	NCBI36
NG_009093.1:g.9970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.479+31C>A MANE Select	ENSP00000317469.7:n.479+31C>A
ENST00000318312.11:c.479+31C>A	ENSP00000317469.7:n.479+31C>A
ENST00000393994.4:c.479+31C>A	ENSP00000377563.2:n.479+31C>A
ENST00000419755.3:c.590+31C>A	ENSP00000398526.3:n.590+31C>A
ENST00000455748.6:c.432+939C>A	ENSP00000405764.2:n.432+939C>A
ENST00000524458.5:c.*140-76C>A	ENSP00000436195.1:n.*140-76C>A
ENST00000524907.5:n.500C>A
ENST00000525809.5:c.206+31C>A	ENSP00000431187.1:n.206+31C>A
ENST00000526035.5:c.*186+31C>A	ENSP00000434197.1:n.*186+31C>A
ENST00000526760.5:c.*186+31C>A	ENSP00000432140.1:n.*186+31C>A
ENST00000527251.5:c.*186+31C>A	ENSP00000434360.1:n.*186+31C>A
ENST00000529766.5:n.486+31C>A
ENST00000529953.5:n.131+31C>A
ENST00000529955.5:n.451-76C>A
ENST00000532908.5:c.*140-76C>A	ENSP00000431866.1:n.*140-76C>A
ENST00000533430.5:n.257+31C>A
ENST00000533557.5:c.*140-76C>A	ENSP00000434619.1:n.*140-76C>A
ENST00000533644.5:c.433-76C>A	ENSP00000436073.1:n.433-76C>A
ENST00000534730.5:n.491+31C>A
ENST00000630659.2:c.*186+31C>A	ENSP00000486455.1:n.*186+31C>A
NM_024649.4:c.479+31C>A	NP_078925.3:n.479+31C>A
NM_024649.5:c.479+31C>A MANE Select	NP_078925.3:n.479+31C>A