Canonical Allele Identifier: CA381455559

Gene: BBS1

Linked Data

• dbSNP Id: rs1252698264
• gnomAD v2: 11-66281885-A-G
• gnomAD v4: 11-66514414-A-G
• MyVariant Identifiers: chr11:g.66281885A>G (hg19) ; chr11:g.66514414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514414A>G , CM000673.2:g.66514414A>G	GRCh38
NC_000011.9:g.66281885A>G , CM000673.1:g.66281885A>G	GRCh37
NC_000011.8:g.66038461A>G	NCBI36
NG_009093.1:g.8767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.168A>G MANE Select	ENSP00000317469.7:p.Val56=
ENST00000318312.11:c.168A>G	ENSP00000317469.7:p.Val56=
ENST00000393994.4:c.168A>G	ENSP00000377563.2:p.Val56=
ENST00000419755.3:c.279A>G	ENSP00000398526.3:p.Val93=
ENST00000455748.6:c.168A>G	ENSP00000405764.2:p.Val56=
ENST00000524458.5:c.43A>G	ENSP00000436195.1:p.Arg15Gly
ENST00000524705.2:c.-20-92A>G	ENSP00000436927.1:n.-20-92A>G
ENST00000524907.5:n.158A>G
ENST00000525809.5:c.160-1126A>G	ENSP00000431187.1:n.160-1126A>G
ENST00000526035.5:c.133A>G	ENSP00000434197.1:p.Arg45Gly
ENST00000526760.5:c.133A>G	ENSP00000432140.1:p.Arg45Gly
ENST00000526815.5:c.78A>G	ENSP00000436860.1:p.Val26=
ENST00000527251.5:c.43A>G	ENSP00000434360.1:p.Arg15Gly
ENST00000529766.5:n.175A>G
ENST00000529955.5:n.186A>G
ENST00000532908.5:c.133A>G	ENSP00000431866.1:p.Arg45Gly
ENST00000533557.5:c.133A>G	ENSP00000434619.1:p.Arg45Gly
ENST00000533644.5:c.168A>G	ENSP00000436073.1:p.Val56=
ENST00000534730.5:n.180A>G
ENST00000630659.2:c.133A>G	ENSP00000486455.1:p.Arg45Gly
NM_024649.4:c.168A>G	NP_078925.3:p.Val56=
NM_024649.5:c.168A>G MANE Select	NP_078925.3:p.Val56=