Canonical Allele Identifier: CA6123288

Gene: BBS1

Linked Data

• dbSNP Id: rs756964235
• ExAC: 11:66281910 C / A
• gnomAD v2: 11-66281910-C-A
• gnomAD v4: 11-66514439-C-A
• MyVariant Identifiers: chr11:g.66281910C>A (hg19) ; chr11:g.66514439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514439C>A , CM000673.2:g.66514439C>A	GRCh38
NC_000011.9:g.66281910C>A , CM000673.1:g.66281910C>A	GRCh37
NC_000011.8:g.66038486C>A	NCBI36
NG_009093.1:g.8792C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.193C>A MANE Select	ENSP00000317469.7:p.Gln65Lys
ENST00000318312.11:c.193C>A	ENSP00000317469.7:p.Gln65Lys
ENST00000393994.4:c.193C>A	ENSP00000377563.2:p.Gln65Lys
ENST00000419755.3:c.304C>A	ENSP00000398526.3:p.Gln102Lys
ENST00000455748.6:c.193C>A	ENSP00000405764.2:p.Gln65Lys
ENST00000524458.5:c.68C>A	ENSP00000436195.1:p.Ala23Glu
ENST00000524705.2:c.-20-67C>A	ENSP00000436927.1:n.-20-67C>A
ENST00000524907.5:n.183C>A
ENST00000525809.5:c.160-1101C>A	ENSP00000431187.1:n.160-1101C>A
ENST00000526035.5:c.158C>A	ENSP00000434197.1:p.Ala53Glu
ENST00000526760.5:c.158C>A	ENSP00000432140.1:p.Ala53Glu
ENST00000526815.5:c.103C>A	ENSP00000436860.1:p.Gln35Lys
ENST00000527251.5:c.68C>A	ENSP00000434360.1:p.Ala23Glu
ENST00000529766.5:n.200C>A
ENST00000529955.5:n.211C>A
ENST00000532908.5:c.158C>A	ENSP00000431866.1:p.Ala53Glu
ENST00000533557.5:c.158C>A	ENSP00000434619.1:p.Ala53Glu
ENST00000533644.5:c.193C>A	ENSP00000436073.1:p.Gln65Lys
ENST00000534730.5:n.205C>A
ENST00000630659.2:c.158C>A	ENSP00000486455.1:p.Ala53Glu
NM_024649.4:c.193C>A	NP_078925.3:p.Gln65Lys
NM_024649.5:c.193C>A MANE Select	NP_078925.3:p.Gln65Lys