Canonical Allele Identifier: CA381453346

Gene: BBS1

Linked Data

• ClinVar Variation Id: 493094
• ClinVar RCV Id: RCV001199647 ; RCV000585181
• dbSNP Id: rs774110999
• gnomAD v4: 11-66510700-C-G
• MyVariant Identifiers: chr11:g.66278171C>G (hg19) ; chr11:g.66510700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510700C>G , CM000673.2:g.66510700C>G	GRCh38
NC_000011.9:g.66278171C>G , CM000673.1:g.66278171C>G	GRCh37
NC_000011.8:g.66034747C>G	NCBI36
NG_009093.1:g.5053C>G
NG_032068.1:g.35292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.41C>G MANE Select	ENSP00000317469.7:p.Ala14Gly
ENST00000318312.11:c.41C>G	ENSP00000317469.7:p.Ala14Gly
ENST00000393994.4:c.41C>G	ENSP00000377563.2:p.Ala14Gly
ENST00000419755.3:c.159-313C>G	ENSP00000398526.3:n.159-313C>G
ENST00000455748.6:c.41C>G	ENSP00000405764.2:p.Ala14Gly
ENST00000524907.5:n.31C>G
ENST00000525809.5:c.41C>G	ENSP00000431187.1:p.Ala14Gly
ENST00000526035.5:c.41C>G	ENSP00000434197.1:p.Ala14Gly
ENST00000526760.5:c.41C>G	ENSP00000432140.1:p.Ala14Gly
ENST00000526815.5:c.-356C>G	ENSP00000436860.1:n.-356C>G
ENST00000527251.5:c.-356C>G	ENSP00000434360.1:n.-356C>G
ENST00000529766.5:n.48C>G
ENST00000529955.5:n.59C>G
ENST00000532908.5:c.41C>G	ENSP00000431866.1:p.Ala14Gly
ENST00000533557.5:c.41C>G	ENSP00000434619.1:p.Ala14Gly
ENST00000533644.5:c.41C>G	ENSP00000436073.1:p.Ala14Gly
ENST00000534730.5:n.53C>G
ENST00000630659.2:c.41C>G	ENSP00000486455.1:p.Ala14Gly
NM_024649.4:c.41C>G	NP_078925.3:p.Ala14Gly
NM_024649.5:c.41C>G MANE Select	NP_078925.3:p.Ala14Gly