Canonical Allele Identifier: CA6123317

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514624G>A , CM000673.2:g.66514624G>A	GRCh38
NC_000011.9:g.66282095G>A , CM000673.1:g.66282095G>A	GRCh37
NC_000011.8:g.66038671G>A	NCBI36
NG_009093.1:g.8977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.378G>A MANE Select	ENSP00000317469.7:p.Leu126=
ENST00000318312.11:c.378G>A	ENSP00000317469.7:p.Leu126=
ENST00000393994.4:c.378G>A	ENSP00000377563.2:p.Leu126=
ENST00000419755.3:c.489G>A	ENSP00000398526.3:p.Leu163=
ENST00000455748.6:c.378G>A	ENSP00000405764.2:p.Leu126=
ENST00000524458.5:c.*85G>A	ENSP00000436195.1:n.*85G>A
ENST00000524705.2:c.99G>A	ENSP00000436927.1:p.Leu33=
ENST00000524907.5:n.368G>A
ENST00000525809.5:c.160-916G>A	ENSP00000431187.1:n.160-916G>A
ENST00000526035.5:c.*85G>A	ENSP00000434197.1:n.*85G>A
ENST00000526760.5:c.*85G>A	ENSP00000432140.1:n.*85G>A
ENST00000527251.5:c.*85G>A	ENSP00000434360.1:n.*85G>A
ENST00000529766.5:n.385G>A
ENST00000529953.5:n.30G>A
ENST00000529955.5:n.396G>A
ENST00000532908.5:c.*85G>A	ENSP00000431866.1:n.*85G>A
ENST00000533430.5:n.156G>A
ENST00000533557.5:c.*85G>A	ENSP00000434619.1:n.*85G>A
ENST00000533644.5:c.378G>A	ENSP00000436073.1:p.Leu126=
ENST00000534730.5:n.390G>A
ENST00000630659.2:c.*85G>A	ENSP00000486455.1:n.*85G>A
NM_024649.4:c.378G>A	NP_078925.3:p.Leu126=
NM_024649.5:c.378G>A MANE Select	NP_078925.3:p.Leu126=