Canonical Allele Identifier: CA381456683

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66282040C>G (hg19) ; chr11:g.66514569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514569C>G , CM000673.2:g.66514569C>G	GRCh38
NC_000011.9:g.66282040C>G , CM000673.1:g.66282040C>G	GRCh37
NC_000011.8:g.66038616C>G	NCBI36
NG_009093.1:g.8922C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.323C>G MANE Select	ENSP00000317469.7:p.Ser108Ter
ENST00000318312.11:c.323C>G	ENSP00000317469.7:p.Ser108Ter
ENST00000393994.4:c.323C>G	ENSP00000377563.2:p.Ser108Ter
ENST00000419755.3:c.434C>G	ENSP00000398526.3:p.Ser145Ter
ENST00000455748.6:c.323C>G	ENSP00000405764.2:p.Ser108Ter
ENST00000524458.5:c.*30C>G	ENSP00000436195.1:n.*30C>G
ENST00000524705.2:c.44C>G	ENSP00000436927.1:p.Ser15Ter
ENST00000524907.5:n.313C>G
ENST00000525809.5:c.160-971C>G	ENSP00000431187.1:n.160-971C>G
ENST00000526035.5:c.*30C>G	ENSP00000434197.1:n.*30C>G
ENST00000526760.5:c.*30C>G	ENSP00000432140.1:n.*30C>G
ENST00000527251.5:c.*30C>G	ENSP00000434360.1:n.*30C>G
ENST00000529766.5:n.330C>G
ENST00000529955.5:n.341C>G
ENST00000532908.5:c.*30C>G	ENSP00000431866.1:n.*30C>G
ENST00000533430.5:n.101C>G
ENST00000533557.5:c.*30C>G	ENSP00000434619.1:n.*30C>G
ENST00000533644.5:c.323C>G	ENSP00000436073.1:p.Ser108Ter
ENST00000534730.5:n.335C>G
ENST00000630659.2:c.*30C>G	ENSP00000486455.1:n.*30C>G
NM_024649.4:c.323C>G	NP_078925.3:p.Ser108Ter
NM_024649.5:c.323C>G MANE Select	NP_078925.3:p.Ser108Ter