Canonical Allele Identifier: CA381457412

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283169C>G (hg19) ; chr11:g.66515698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515698C>G , CM000673.2:g.66515698C>G	GRCh38
NC_000011.9:g.66283169C>G , CM000673.1:g.66283169C>G	GRCh37
NC_000011.8:g.66039745C>G	NCBI36
NG_009093.1:g.10051C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.485C>G MANE Select	ENSP00000317469.7:p.Thr162Arg
ENST00000318312.11:c.485C>G	ENSP00000317469.7:p.Thr162Arg
ENST00000393994.4:c.485C>G	ENSP00000377563.2:p.Thr162Arg
ENST00000419755.3:c.596C>G	ENSP00000398526.3:p.Thr199Arg
ENST00000455748.6:c.432+1020C>G	ENSP00000405764.2:n.432+1020C>G
ENST00000524458.5:c.*145C>G	ENSP00000436195.1:n.*145C>G
ENST00000524907.5:n.581C>G
ENST00000525809.5:c.212C>G	ENSP00000431187.1:p.Thr71Arg
ENST00000526035.5:c.*192C>G	ENSP00000434197.1:n.*192C>G
ENST00000526760.5:c.*192C>G	ENSP00000432140.1:n.*192C>G
ENST00000527251.5:c.*192C>G	ENSP00000434360.1:n.*192C>G
ENST00000528543.1:n.7C>G
ENST00000529766.5:n.492C>G
ENST00000529953.5:n.137C>G
ENST00000529955.5:n.456C>G
ENST00000532908.5:c.*145C>G	ENSP00000431866.1:n.*145C>G
ENST00000533430.5:n.263C>G
ENST00000533557.5:c.*145C>G	ENSP00000434619.1:n.*145C>G
ENST00000533644.5:c.438C>G	ENSP00000436073.1:p.Asp146Glu
ENST00000534730.5:n.497C>G
ENST00000630659.2:c.*192C>G	ENSP00000486455.1:n.*192C>G
NM_024649.4:c.485C>G	NP_078925.3:p.Thr162Arg
NM_024649.5:c.485C>G MANE Select	NP_078925.3:p.Thr162Arg