Canonical Allele Identifier: CA381453273

Gene: BBS1

Linked Data

• dbSNP Id: rs1432515630
• gnomAD v2: 11-66278156-C-G
• gnomAD v4: 11-66510685-C-G
• MyVariant Identifiers: chr11:g.66278156C>G (hg19) ; chr11:g.66510685C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510685C>G , CM000673.2:g.66510685C>G	GRCh38
NC_000011.9:g.66278156C>G , CM000673.1:g.66278156C>G	GRCh37
NC_000011.8:g.66034732C>G	NCBI36
NG_009093.1:g.5038C>G
NG_032068.1:g.35277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.26C>G MANE Select	ENSP00000317469.7:p.Ser9Cys
ENST00000318312.11:c.26C>G	ENSP00000317469.7:p.Ser9Cys
ENST00000393994.4:c.26C>G	ENSP00000377563.2:p.Ser9Cys
ENST00000419755.3:c.159-328C>G	ENSP00000398526.3:n.159-328C>G
ENST00000455748.6:c.26C>G	ENSP00000405764.2:p.Ser9Cys
ENST00000524907.5:n.16C>G
ENST00000525809.5:c.26C>G	ENSP00000431187.1:p.Ser9Cys
ENST00000526035.5:c.26C>G	ENSP00000434197.1:p.Ser9Cys
ENST00000526760.5:c.26C>G	ENSP00000432140.1:p.Ser9Cys
ENST00000526815.5:c.-371C>G	ENSP00000436860.1:n.-371C>G
ENST00000527251.5:c.-371C>G	ENSP00000434360.1:n.-371C>G
ENST00000529766.5:n.33C>G
ENST00000529955.5:n.44C>G
ENST00000532908.5:c.26C>G	ENSP00000431866.1:p.Ser9Cys
ENST00000533557.5:c.26C>G	ENSP00000434619.1:p.Ser9Cys
ENST00000533644.5:c.26C>G	ENSP00000436073.1:p.Ser9Cys
ENST00000534730.5:n.38C>G
ENST00000630659.2:c.26C>G	ENSP00000486455.1:p.Ser9Cys
NM_024649.4:c.26C>G	NP_078925.3:p.Ser9Cys
NM_024649.5:c.26C>G MANE Select	NP_078925.3:p.Ser9Cys