Canonical Allele Identifier: CA381456515
Gene: BBS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514538G>T , CM000673.2:g.66514538G>T GRCh38
NC_000011.9:g.66282009G>T , CM000673.1:g.66282009G>T GRCh37
NC_000011.8:g.66038585G>T NCBI36
NG_009093.1:g.8891G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.292G>T MANE Select ENSP00000317469.7:p.Glu98Ter
ENST00000318312.11:c.292G>T ENSP00000317469.7:p.Glu98Ter
ENST00000393994.4:c.292G>T ENSP00000377563.2:p.Glu98Ter
ENST00000419755.3:c.403G>T ENSP00000398526.3:p.Glu135Ter
ENST00000455748.6:c.292G>T ENSP00000405764.2:p.Glu98Ter
ENST00000524458.5:c.167G>T ENSP00000436195.1:p.Ter56Leu
ENST00000524705.2:c.13G>T ENSP00000436927.1:p.Glu5Ter
ENST00000524907.5:n.282G>T
ENST00000525809.5:c.160-1002G>T ENSP00000431187.1:n.160-1002G>T
ENST00000526035.5:c.257G>T ENSP00000434197.1:p.Ter86Leu
ENST00000526760.5:c.257G>T ENSP00000432140.1:p.Ter86Leu
ENST00000527251.5:c.167G>T ENSP00000434360.1:p.Ter56Leu
ENST00000529766.5:n.299G>T
ENST00000529955.5:n.310G>T
ENST00000532908.5:c.257G>T ENSP00000431866.1:p.Ter86Leu
ENST00000533430.5:n.70G>T
ENST00000533557.5:c.257G>T ENSP00000434619.1:p.Ter86Leu
ENST00000533644.5:c.292G>T ENSP00000436073.1:p.Glu98Ter
ENST00000534730.5:n.304G>T
ENST00000630659.2:c.257G>T ENSP00000486455.1:p.Ter86Leu
NM_024649.4:c.292G>T NP_078925.3:p.Glu98Ter
NM_024649.5:c.292G>T MANE Select NP_078925.3:p.Glu98Ter