Canonical Allele Identifier: CA6123183
Gene: BBS1 HGNC NCBI

Linked Data

dbSNP Id: rs748399641

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66510676C>T , CM000673.2:g.66510676C>T GRCh38
NC_000011.9:g.66278147C>T , CM000673.1:g.66278147C>T GRCh37
NC_000011.8:g.66034723C>T NCBI36
NG_009093.1:g.5029C>T
NG_032068.1:g.35268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.17C>T MANE Select ENSP00000317469.7:p.Ser6Leu
ENST00000318312.11:c.17C>T ENSP00000317469.7:p.Ser6Leu
ENST00000393994.4:c.17C>T ENSP00000377563.2:p.Ser6Leu
ENST00000419755.3:c.159-337C>T ENSP00000398526.3:n.159-337C>T
ENST00000455748.6:c.17C>T ENSP00000405764.2:p.Ser6Leu
ENST00000524907.5:n.7C>T
ENST00000525809.5:c.17C>T ENSP00000431187.1:p.Ser6Leu
ENST00000526035.5:c.17C>T ENSP00000434197.1:p.Ser6Leu
ENST00000526760.5:c.17C>T ENSP00000432140.1:p.Ser6Leu
ENST00000526815.5:c.-380C>T ENSP00000436860.1:n.-380C>T
ENST00000527251.5:c.-380C>T ENSP00000434360.1:n.-380C>T
ENST00000529766.5:n.24C>T
ENST00000529955.5:n.35C>T
ENST00000532908.5:c.17C>T ENSP00000431866.1:p.Ser6Leu
ENST00000533557.5:c.17C>T ENSP00000434619.1:p.Ser6Leu
ENST00000533644.5:c.17C>T ENSP00000436073.1:p.Ser6Leu
ENST00000534730.5:n.29C>T
ENST00000630659.2:c.17C>T ENSP00000486455.1:p.Ser6Leu
NM_024649.4:c.17C>T NP_078925.3:p.Ser6Leu
NM_024649.5:c.17C>T MANE Select NP_078925.3:p.Ser6Leu