Canonical Allele Identifier: CA381456889

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514609C>A , CM000673.2:g.66514609C>A	GRCh38
NC_000011.9:g.66282080C>A , CM000673.1:g.66282080C>A	GRCh37
NC_000011.8:g.66038656C>A	NCBI36
NG_009093.1:g.8962C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.363C>A MANE Select	NP_078925.3:p.Tyr121Ter
ENST00000318312.12:c.363C>A MANE Select	ENSP00000317469.7:p.Tyr121Ter
NM_024649.4:c.363C>A	NP_078925.3:p.Tyr121Ter
ENST00000318312.11:c.363C>A	ENSP00000317469.7:p.Tyr121Ter
ENST00000393994.4:c.363C>A	ENSP00000377563.2:p.Tyr121Ter
ENST00000419755.3:c.474C>A	ENSP00000398526.3:p.Tyr158Ter
ENST00000455748.6:c.363C>A	ENSP00000405764.2:p.Tyr121Ter
ENST00000524458.5:c.*70C>A	ENSP00000436195.1:n.*70C>A
ENST00000524705.2:c.84C>A	ENSP00000436927.1:p.Tyr28Ter
ENST00000524907.5:n.353C>A
ENST00000525809.5:c.160-931C>A	ENSP00000431187.1:n.160-931C>A
ENST00000526035.5:c.*70C>A	ENSP00000434197.1:n.*70C>A
ENST00000526760.5:c.*70C>A	ENSP00000432140.1:n.*70C>A
ENST00000527251.5:c.*70C>A	ENSP00000434360.1:n.*70C>A
ENST00000529766.5:n.370C>A
ENST00000529953.5:n.15C>A
ENST00000529955.5:n.381C>A
ENST00000532908.5:c.*70C>A	ENSP00000431866.1:n.*70C>A
ENST00000533430.5:n.141C>A
ENST00000533557.5:c.*70C>A	ENSP00000434619.1:n.*70C>A
ENST00000533644.5:c.363C>A	ENSP00000436073.1:p.Tyr121Ter
ENST00000534730.5:n.375C>A
ENST00000630659.2:c.*70C>A	ENSP00000486455.1:n.*70C>A