Canonical Allele Identifier: CA381457456

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515719-T-C
• MyVariant Identifiers: chr11:g.66283190T>C (hg19) ; chr11:g.66515719T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515719T>C , CM000673.2:g.66515719T>C	GRCh38
NC_000011.9:g.66283190T>C , CM000673.1:g.66283190T>C	GRCh37
NC_000011.8:g.66039766T>C	NCBI36
NG_009093.1:g.10072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.506T>C MANE Select	ENSP00000317469.7:p.Ile169Thr
ENST00000318312.11:c.506T>C	ENSP00000317469.7:p.Ile169Thr
ENST00000393994.4:c.506T>C	ENSP00000377563.2:p.Ile169Thr
ENST00000419755.3:c.617T>C	ENSP00000398526.3:p.Ile206Thr
ENST00000455748.6:c.432+1041T>C	ENSP00000405764.2:n.432+1041T>C
ENST00000524458.5:c.*166T>C	ENSP00000436195.1:n.*166T>C
ENST00000524907.5:n.602T>C
ENST00000525809.5:c.233T>C	ENSP00000431187.1:p.Ile78Thr
ENST00000526035.5:c.*213T>C	ENSP00000434197.1:n.*213T>C
ENST00000526760.5:c.*213T>C	ENSP00000432140.1:n.*213T>C
ENST00000527251.5:c.*213T>C	ENSP00000434360.1:n.*213T>C
ENST00000528543.1:n.28T>C
ENST00000529766.5:n.513T>C
ENST00000529953.5:n.158T>C
ENST00000529955.5:n.477T>C
ENST00000532908.5:c.*166T>C	ENSP00000431866.1:n.*166T>C
ENST00000533430.5:n.284T>C
ENST00000533557.5:c.*166T>C	ENSP00000434619.1:n.*166T>C
ENST00000533644.5:c.459T>C	ENSP00000436073.1:p.His153=
ENST00000534730.5:n.518T>C
ENST00000630659.2:c.*213T>C	ENSP00000486455.1:n.*213T>C
NM_024649.4:c.506T>C	NP_078925.3:p.Ile169Thr
NM_024649.5:c.506T>C MANE Select	NP_078925.3:p.Ile169Thr