Canonical Allele Identifier: CA475368582

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515894-A-G
• MyVariant Identifiers: chr11:g.66283365A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515894A>G , CM000673.2:g.66515894A>G	GRCh38
NC_000011.9:g.66283365A>G , CM000673.1:g.66283365A>G	GRCh37
NC_000011.8:g.66039941A>G	NCBI36
NG_009093.1:g.10247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.552A>G MANE Select	ENSP00000317469.7:p.Ala184=
ENST00000318312.11:c.552A>G	ENSP00000317469.7:p.Ala184=
ENST00000393994.4:c.552A>G	ENSP00000377563.2:p.Ala184=
ENST00000419755.3:c.663A>G	ENSP00000398526.3:p.Ala221=
ENST00000455748.6:c.432+1216A>G	ENSP00000405764.2:n.432+1216A>G
ENST00000524458.5:c.*341A>G	ENSP00000436195.1:n.*341A>G
ENST00000524907.5:n.648A>G
ENST00000525809.5:c.279A>G	ENSP00000431187.1:p.Ala93=
ENST00000526035.5:c.*259A>G	ENSP00000434197.1:n.*259A>G
ENST00000526760.5:c.*259A>G	ENSP00000432140.1:n.*259A>G
ENST00000527251.5:c.*259A>G	ENSP00000434360.1:n.*259A>G
ENST00000528543.1:n.74A>G
ENST00000529766.5:n.559A>G
ENST00000529953.5:n.204A>G
ENST00000529955.5:n.523A>G
ENST00000532908.5:c.*212A>G	ENSP00000431866.1:n.*212A>G
ENST00000533430.5:n.330A>G
ENST00000533557.5:c.*212A>G	ENSP00000434619.1:n.*212A>G
ENST00000533644.5:c.*10A>G	ENSP00000436073.1:n.*10A>G
ENST00000630659.2:c.*259A>G	ENSP00000486455.1:n.*259A>G
NM_024649.4:c.552A>G	NP_078925.3:p.Ala184=
NM_024649.5:c.552A>G MANE Select	NP_078925.3:p.Ala184=