Canonical Allele Identifier: CA6123218

Gene: BBS1

Linked Data

• ClinVar Variation Id: 290984
• ClinVar RCV Id: RCV000360947 ; RCV001491811 ; RCV003957524
• dbSNP Id: rs765571574
• ExAC: 11:66278475 C / A
• gnomAD v2: 11-66278475-C-A
• gnomAD v3: 11-66511004-C-A
• gnomAD v4: 11-66511004-C-A
• MyVariant Identifiers: chr11:g.66278475C>A (hg19) ; chr11:g.66511004C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66511004C>A , CM000673.2:g.66511004C>A	GRCh38
NC_000011.9:g.66278475C>A , CM000673.1:g.66278475C>A	GRCh37
NC_000011.8:g.66035051C>A	NCBI36
NG_009093.1:g.5357C>A
NG_032068.1:g.35596C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.48-9C>A MANE Select	ENSP00000317469.7:n.48-9C>A
ENST00000318312.11:c.48-9C>A	ENSP00000317469.7:n.48-9C>A
ENST00000393994.4:c.48-9C>A	ENSP00000377563.2:n.48-9C>A
ENST00000419755.3:c.159-9C>A	ENSP00000398526.3:n.159-9C>A
ENST00000455748.6:c.48-9C>A	ENSP00000405764.2:n.48-9C>A
ENST00000524907.5:n.38-9C>A
ENST00000525809.5:c.48-9C>A	ENSP00000431187.1:n.48-9C>A
ENST00000526035.5:c.48-9C>A	ENSP00000434197.1:n.48-9C>A
ENST00000526760.5:c.48-9C>A	ENSP00000432140.1:n.48-9C>A
ENST00000526815.5:c.-52C>A	ENSP00000436860.1:n.-52C>A
ENST00000527251.5:c.-52C>A	ENSP00000434360.1:n.-52C>A
ENST00000529766.5:n.55-9C>A
ENST00000529955.5:n.66-9C>A
ENST00000532908.5:c.48-9C>A	ENSP00000431866.1:n.48-9C>A
ENST00000533557.5:c.48-9C>A	ENSP00000434619.1:n.48-9C>A
ENST00000533644.5:c.48-9C>A	ENSP00000436073.1:n.48-9C>A
ENST00000534730.5:n.60-9C>A
ENST00000630659.2:c.48-9C>A	ENSP00000486455.1:n.48-9C>A
NM_024649.4:c.48-9C>A	NP_078925.3:n.48-9C>A
NM_024649.5:c.48-9C>A MANE Select	NP_078925.3:n.48-9C>A