Canonical Allele Identifier: CA381455594

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514418-G-A
• MyVariant Identifiers: chr11:g.66281889G>A (hg19) ; chr11:g.66514418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514418G>A , CM000673.2:g.66514418G>A	GRCh38
NC_000011.9:g.66281889G>A , CM000673.1:g.66281889G>A	GRCh37
NC_000011.8:g.66038465G>A	NCBI36
NG_009093.1:g.8771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.172G>A MANE Select	ENSP00000317469.7:p.Asp58Asn
ENST00000318312.11:c.172G>A	ENSP00000317469.7:p.Asp58Asn
ENST00000393994.4:c.172G>A	ENSP00000377563.2:p.Asp58Asn
ENST00000419755.3:c.283G>A	ENSP00000398526.3:p.Asp95Asn
ENST00000455748.6:c.172G>A	ENSP00000405764.2:p.Asp58Asn
ENST00000524458.5:c.47G>A	ENSP00000436195.1:p.Gly16Glu
ENST00000524705.2:c.-20-88G>A	ENSP00000436927.1:n.-20-88G>A
ENST00000524907.5:n.162G>A
ENST00000525809.5:c.160-1122G>A	ENSP00000431187.1:n.160-1122G>A
ENST00000526035.5:c.137G>A	ENSP00000434197.1:p.Gly46Glu
ENST00000526760.5:c.137G>A	ENSP00000432140.1:p.Gly46Glu
ENST00000526815.5:c.82G>A	ENSP00000436860.1:p.Asp28Asn
ENST00000527251.5:c.47G>A	ENSP00000434360.1:p.Gly16Glu
ENST00000529766.5:n.179G>A
ENST00000529955.5:n.190G>A
ENST00000532908.5:c.137G>A	ENSP00000431866.1:p.Gly46Glu
ENST00000533557.5:c.137G>A	ENSP00000434619.1:p.Gly46Glu
ENST00000533644.5:c.172G>A	ENSP00000436073.1:p.Asp58Asn
ENST00000534730.5:n.184G>A
ENST00000630659.2:c.137G>A	ENSP00000486455.1:p.Gly46Glu
NM_024649.4:c.172G>A	NP_078925.3:p.Asp58Asn
NM_024649.5:c.172G>A MANE Select	NP_078925.3:p.Asp58Asn