Canonical Allele Identifier: CA381457293

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283014C>G (hg19) ; chr11:g.66515543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515543C>G , CM000673.2:g.66515543C>G	GRCh38
NC_000011.9:g.66283014C>G , CM000673.1:g.66283014C>G	GRCh37
NC_000011.8:g.66039590C>G	NCBI36
NG_009093.1:g.9896C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.436C>G MANE Select	ENSP00000317469.7:p.Arg146Gly
ENST00000318312.11:c.436C>G	ENSP00000317469.7:p.Arg146Gly
ENST00000393994.4:c.436C>G	ENSP00000377563.2:p.Arg146Gly
ENST00000419755.3:c.547C>G	ENSP00000398526.3:p.Arg183Gly
ENST00000455748.6:c.432+865C>G	ENSP00000405764.2:n.432+865C>G
ENST00000524458.5:c.*140-150C>G	ENSP00000436195.1:n.*140-150C>G
ENST00000524705.2:c.157C>G	ENSP00000436927.1:p.Arg53Gly
ENST00000524907.5:n.426C>G
ENST00000525809.5:c.163C>G	ENSP00000431187.1:p.Arg55Gly
ENST00000526035.5:c.*143C>G	ENSP00000434197.1:n.*143C>G
ENST00000526760.5:c.*143C>G	ENSP00000432140.1:n.*143C>G
ENST00000527251.5:c.*143C>G	ENSP00000434360.1:n.*143C>G
ENST00000529766.5:n.443C>G
ENST00000529953.5:n.88C>G
ENST00000529955.5:n.451-150C>G
ENST00000532908.5:c.*140-150C>G	ENSP00000431866.1:n.*140-150C>G
ENST00000533430.5:n.214C>G
ENST00000533557.5:c.*140-150C>G	ENSP00000434619.1:n.*140-150C>G
ENST00000533644.5:c.433-150C>G	ENSP00000436073.1:n.433-150C>G
ENST00000534730.5:n.448C>G
ENST00000630659.2:c.*143C>G	ENSP00000486455.1:n.*143C>G
NM_024649.4:c.436C>G	NP_078925.3:p.Arg146Gly
NM_024649.5:c.436C>G MANE Select	NP_078925.3:p.Arg146Gly