Canonical Allele Identifier: CA381457285

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1719208
• ClinVar RCV Id: RCV002301968
• MyVariant Identifiers: chr11:g.66283011G>T (hg19) ; chr11:g.66515540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515540G>T , CM000673.2:g.66515540G>T	GRCh38
NC_000011.9:g.66283011G>T , CM000673.1:g.66283011G>T	GRCh37
NC_000011.8:g.66039587G>T	NCBI36
NG_009093.1:g.9893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.433G>T MANE Select	ENSP00000317469.7:p.Asp145Tyr
ENST00000318312.11:c.433G>T	ENSP00000317469.7:p.Asp145Tyr
ENST00000393994.4:c.433G>T	ENSP00000377563.2:p.Asp145Tyr
ENST00000419755.3:c.544G>T	ENSP00000398526.3:p.Asp182Tyr
ENST00000455748.6:c.432+862G>T	ENSP00000405764.2:n.432+862G>T
ENST00000524458.5:c.*140-153G>T	ENSP00000436195.1:n.*140-153G>T
ENST00000524705.2:c.154G>T	ENSP00000436927.1:p.Asp52Tyr
ENST00000524907.5:n.423G>T
ENST00000525809.5:c.160G>T	ENSP00000431187.1:p.Asp54Tyr
ENST00000526035.5:c.*140G>T	ENSP00000434197.1:n.*140G>T
ENST00000526760.5:c.*140G>T	ENSP00000432140.1:n.*140G>T
ENST00000527251.5:c.*140G>T	ENSP00000434360.1:n.*140G>T
ENST00000529766.5:n.440G>T
ENST00000529953.5:n.85G>T
ENST00000529955.5:n.451-153G>T
ENST00000532908.5:c.*140-153G>T	ENSP00000431866.1:n.*140-153G>T
ENST00000533430.5:n.211G>T
ENST00000533557.5:c.*140-153G>T	ENSP00000434619.1:n.*140-153G>T
ENST00000533644.5:c.433-153G>T	ENSP00000436073.1:n.433-153G>T
ENST00000534730.5:n.445G>T
ENST00000630659.2:c.*140G>T	ENSP00000486455.1:n.*140G>T
NM_024649.4:c.433G>T	NP_078925.3:p.Asp145Tyr
NM_024649.5:c.433G>T MANE Select	NP_078925.3:p.Asp145Tyr