Canonical Allele Identifier: CA381457301

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283018T>C (hg19) ; chr11:g.66515547T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515547T>C , CM000673.2:g.66515547T>C	GRCh38
NC_000011.9:g.66283018T>C , CM000673.1:g.66283018T>C	GRCh37
NC_000011.8:g.66039594T>C	NCBI36
NG_009093.1:g.9900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.440T>C MANE Select	ENSP00000317469.7:p.Ile147Thr
ENST00000318312.11:c.440T>C	ENSP00000317469.7:p.Ile147Thr
ENST00000393994.4:c.440T>C	ENSP00000377563.2:p.Ile147Thr
ENST00000419755.3:c.551T>C	ENSP00000398526.3:p.Ile184Thr
ENST00000455748.6:c.432+869T>C	ENSP00000405764.2:n.432+869T>C
ENST00000524458.5:c.*140-146T>C	ENSP00000436195.1:n.*140-146T>C
ENST00000524705.2:c.161T>C	ENSP00000436927.1:p.Ile54Thr
ENST00000524907.5:n.430T>C
ENST00000525809.5:c.167T>C	ENSP00000431187.1:p.Ile56Thr
ENST00000526035.5:c.*147T>C	ENSP00000434197.1:n.*147T>C
ENST00000526760.5:c.*147T>C	ENSP00000432140.1:n.*147T>C
ENST00000527251.5:c.*147T>C	ENSP00000434360.1:n.*147T>C
ENST00000529766.5:n.447T>C
ENST00000529953.5:n.92T>C
ENST00000529955.5:n.451-146T>C
ENST00000532908.5:c.*140-146T>C	ENSP00000431866.1:n.*140-146T>C
ENST00000533430.5:n.218T>C
ENST00000533557.5:c.*140-146T>C	ENSP00000434619.1:n.*140-146T>C
ENST00000533644.5:c.433-146T>C	ENSP00000436073.1:n.433-146T>C
ENST00000534730.5:n.452T>C
ENST00000630659.2:c.*147T>C	ENSP00000486455.1:n.*147T>C
NM_024649.4:c.440T>C	NP_078925.3:p.Ile147Thr
NM_024649.5:c.440T>C MANE Select	NP_078925.3:p.Ile147Thr