Canonical Allele Identifier: CA475368410

Gene: BBS1

Linked Data

• gnomAD v4: 11-66514675-A-G
• MyVariant Identifiers: chr11:g.66282146A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514675A>G , CM000673.2:g.66514675A>G	GRCh38
NC_000011.9:g.66282146A>G , CM000673.1:g.66282146A>G	GRCh37
NC_000011.8:g.66038722A>G	NCBI36
NG_009093.1:g.9028A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.429A>G MANE Select	ENSP00000317469.7:p.Lys143=
ENST00000318312.11:c.429A>G	ENSP00000317469.7:p.Lys143=
ENST00000393994.4:c.429A>G	ENSP00000377563.2:p.Lys143=
ENST00000419755.3:c.540A>G	ENSP00000398526.3:p.Lys180=
ENST00000455748.6:c.429A>G	ENSP00000405764.2:p.Lys143=
ENST00000524458.5:c.*136A>G	ENSP00000436195.1:n.*136A>G
ENST00000524705.2:c.150A>G	ENSP00000436927.1:p.Lys50=
ENST00000524907.5:n.419A>G
ENST00000525809.5:c.160-865A>G	ENSP00000431187.1:n.160-865A>G
ENST00000526035.5:c.*136A>G	ENSP00000434197.1:n.*136A>G
ENST00000526760.5:c.*136A>G	ENSP00000432140.1:n.*136A>G
ENST00000527251.5:c.*136A>G	ENSP00000434360.1:n.*136A>G
ENST00000529766.5:n.436A>G
ENST00000529953.5:n.81A>G
ENST00000529955.5:n.447A>G
ENST00000532908.5:c.*136A>G	ENSP00000431866.1:n.*136A>G
ENST00000533430.5:n.207A>G
ENST00000533557.5:c.*136A>G	ENSP00000434619.1:n.*136A>G
ENST00000533644.5:c.429A>G	ENSP00000436073.1:p.Lys143=
ENST00000534730.5:n.441A>G
ENST00000630659.2:c.*136A>G	ENSP00000486455.1:n.*136A>G
NM_024649.4:c.429A>G	NP_078925.3:p.Lys143=
NM_024649.5:c.429A>G MANE Select	NP_078925.3:p.Lys143=