Canonical Allele Identifier: CA6123345

Gene: BBS1

Linked Data

• ClinVar Variation Id: 879531
• ClinVar RCV Id: RCV001107116 ; RCV001396142 ; RCV003973074
• dbSNP Id: rs544997496
• ExAC: 11:66283019 C / T
• gnomAD v2: 11-66283019-C-T
• gnomAD v3: 11-66515548-C-T
• gnomAD v4: 11-66515548-C-T
• MyVariant Identifiers: chr11:g.66283019C>T (hg19) ; chr11:g.66515548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515548C>T , CM000673.2:g.66515548C>T	GRCh38
NC_000011.9:g.66283019C>T , CM000673.1:g.66283019C>T	GRCh37
NC_000011.8:g.66039595C>T	NCBI36
NG_009093.1:g.9901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.441C>T MANE Select	ENSP00000317469.7:p.Ile147=
ENST00000318312.11:c.441C>T	ENSP00000317469.7:p.Ile147=
ENST00000393994.4:c.441C>T	ENSP00000377563.2:p.Ile147=
ENST00000419755.3:c.552C>T	ENSP00000398526.3:p.Ile184=
ENST00000455748.6:c.432+870C>T	ENSP00000405764.2:n.432+870C>T
ENST00000524458.5:c.*140-145C>T	ENSP00000436195.1:n.*140-145C>T
ENST00000524705.2:c.162C>T	ENSP00000436927.1:p.Ile54=
ENST00000524907.5:n.431C>T
ENST00000525809.5:c.168C>T	ENSP00000431187.1:p.Ile56=
ENST00000526035.5:c.*148C>T	ENSP00000434197.1:n.*148C>T
ENST00000526760.5:c.*148C>T	ENSP00000432140.1:n.*148C>T
ENST00000527251.5:c.*148C>T	ENSP00000434360.1:n.*148C>T
ENST00000529766.5:n.448C>T
ENST00000529953.5:n.93C>T
ENST00000529955.5:n.451-145C>T
ENST00000532908.5:c.*140-145C>T	ENSP00000431866.1:n.*140-145C>T
ENST00000533430.5:n.219C>T
ENST00000533557.5:c.*140-145C>T	ENSP00000434619.1:n.*140-145C>T
ENST00000533644.5:c.433-145C>T	ENSP00000436073.1:n.433-145C>T
ENST00000534730.5:n.453C>T
ENST00000630659.2:c.*148C>T	ENSP00000486455.1:n.*148C>T
NM_024649.4:c.441C>T	NP_078925.3:p.Ile147=
NM_024649.5:c.441C>T MANE Select	NP_078925.3:p.Ile147=