Canonical Allele Identifier: CA381455673
Gene: BBS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66514432T>A , CM000673.2:g.66514432T>A GRCh38
NC_000011.9:g.66281903T>A , CM000673.1:g.66281903T>A GRCh37
NC_000011.8:g.66038479T>A NCBI36
NG_009093.1:g.8785T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.186T>A MANE Select ENSP00000317469.7:p.Gly62=
ENST00000318312.11:c.186T>A ENSP00000317469.7:p.Gly62=
ENST00000393994.4:c.186T>A ENSP00000377563.2:p.Gly62=
ENST00000419755.3:c.297T>A ENSP00000398526.3:p.Gly99=
ENST00000455748.6:c.186T>A ENSP00000405764.2:p.Gly62=
ENST00000524458.5:c.61T>A ENSP00000436195.1:p.Trp21Arg
ENST00000524705.2:c.-20-74T>A ENSP00000436927.1:n.-20-74T>A
ENST00000524907.5:n.176T>A
ENST00000525809.5:c.160-1108T>A ENSP00000431187.1:n.160-1108T>A
ENST00000526035.5:c.151T>A ENSP00000434197.1:p.Trp51Arg
ENST00000526760.5:c.151T>A ENSP00000432140.1:p.Trp51Arg
ENST00000526815.5:c.96T>A ENSP00000436860.1:p.Gly32=
ENST00000527251.5:c.61T>A ENSP00000434360.1:p.Trp21Arg
ENST00000529766.5:n.193T>A
ENST00000529955.5:n.204T>A
ENST00000532908.5:c.151T>A ENSP00000431866.1:p.Trp51Arg
ENST00000533557.5:c.151T>A ENSP00000434619.1:p.Trp51Arg
ENST00000533644.5:c.186T>A ENSP00000436073.1:p.Gly62=
ENST00000534730.5:n.198T>A
ENST00000630659.2:c.151T>A ENSP00000486455.1:p.Trp51Arg
NM_024649.4:c.186T>A NP_078925.3:p.Gly62=
NM_024649.5:c.186T>A MANE Select NP_078925.3:p.Gly62=