Canonical Allele Identifier: CA6123193

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510705A>T , CM000673.2:g.66510705A>T	GRCh38
NC_000011.9:g.66278176A>T , CM000673.1:g.66278176A>T	GRCh37
NC_000011.8:g.66034752A>T	NCBI36
NG_009093.1:g.5058A>T
NG_032068.1:g.35297A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.46A>T MANE Select	NP_078925.3:p.Ser16Cys
ENST00000318312.12:c.46A>T MANE Select	ENSP00000317469.7:p.Ser16Cys
NM_024649.4:c.46A>T	NP_078925.3:p.Ser16Cys
ENST00000318312.11:c.46A>T	ENSP00000317469.7:p.Ser16Cys
ENST00000393994.4:c.46A>T	ENSP00000377563.2:p.Ser16Cys
ENST00000419755.3:c.159-308A>T	ENSP00000398526.3:n.159-308A>T
ENST00000455748.6:c.46A>T	ENSP00000405764.2:p.Ser16Cys
ENST00000524907.5:n.36A>T
ENST00000525809.5:c.46A>T	ENSP00000431187.1:p.Ser16Cys
ENST00000526035.5:c.46A>T	ENSP00000434197.1:p.Ser16Cys
ENST00000526760.5:c.46A>T	ENSP00000432140.1:p.Ser16Cys
ENST00000526815.5:c.-351A>T	ENSP00000436860.1:n.-351A>T
ENST00000527251.5:c.-351A>T	ENSP00000434360.1:n.-351A>T
ENST00000529766.5:n.53A>T
ENST00000529955.5:n.64A>T
ENST00000532908.5:c.46A>T	ENSP00000431866.1:p.Ser16Cys
ENST00000533557.5:c.46A>T	ENSP00000434619.1:p.Ser16Cys
ENST00000533644.5:c.46A>T	ENSP00000436073.1:p.Ser16Cys
ENST00000534730.5:n.58A>T
ENST00000630659.2:c.46A>T	ENSP00000486455.1:p.Ser16Cys