Canonical Allele Identifier: CA6123290

Gene: BBS1

Linked Data

• ClinVar Variation Id: 879529
• ClinVar RCV Id: RCV001107113 ; RCV001242391 ; RCV001819816 ; RCV002556096 ; RCV003396749
• dbSNP Id: rs145718265
• ExAC: 11:66281917 G / A
• gnomAD v2: 11-66281917-G-A
• gnomAD v3: 11-66514446-G-A
• gnomAD v4: 11-66514446-G-A
• MyVariant Identifiers: chr11:g.66281917G>A (hg19) ; chr11:g.66514446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514446G>A , CM000673.2:g.66514446G>A	GRCh38
NC_000011.9:g.66281917G>A , CM000673.1:g.66281917G>A	GRCh37
NC_000011.8:g.66038493G>A	NCBI36
NG_009093.1:g.8799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.200G>A MANE Select	ENSP00000317469.7:p.Arg67His
ENST00000318312.11:c.200G>A	ENSP00000317469.7:p.Arg67His
ENST00000393994.4:c.200G>A	ENSP00000377563.2:p.Arg67His
ENST00000419755.3:c.311G>A	ENSP00000398526.3:p.Arg104His
ENST00000455748.6:c.200G>A	ENSP00000405764.2:p.Arg67His
ENST00000524458.5:c.75G>A	ENSP00000436195.1:p.Pro25=
ENST00000524705.2:c.-20-60G>A	ENSP00000436927.1:n.-20-60G>A
ENST00000524907.5:n.190G>A
ENST00000525809.5:c.160-1094G>A	ENSP00000431187.1:n.160-1094G>A
ENST00000526035.5:c.165G>A	ENSP00000434197.1:p.Pro55=
ENST00000526760.5:c.165G>A	ENSP00000432140.1:p.Pro55=
ENST00000526815.5:c.110G>A	ENSP00000436860.1:p.Arg37His
ENST00000527251.5:c.75G>A	ENSP00000434360.1:p.Pro25=
ENST00000529766.5:n.207G>A
ENST00000529955.5:n.218G>A
ENST00000532908.5:c.165G>A	ENSP00000431866.1:p.Pro55=
ENST00000533557.5:c.165G>A	ENSP00000434619.1:p.Pro55=
ENST00000533644.5:c.200G>A	ENSP00000436073.1:p.Arg67His
ENST00000534730.5:n.212G>A
ENST00000630659.2:c.165G>A	ENSP00000486455.1:p.Pro55=
NM_024649.4:c.200G>A	NP_078925.3:p.Arg67His
NM_024649.5:c.200G>A MANE Select	NP_078925.3:p.Arg67His