Canonical Allele Identifier: CA475492228

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514558G>T , CM000673.2:g.66514558G>T	GRCh38
NC_000011.9:g.66282029G>T , CM000673.1:g.66282029G>T	GRCh37
NC_000011.8:g.66038605G>T	NCBI36
NG_009093.1:g.8911G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.312G>T MANE Select	ENSP00000317469.7:p.Leu104=
ENST00000318312.11:c.312G>T	ENSP00000317469.7:p.Leu104=
ENST00000393994.4:c.312G>T	ENSP00000377563.2:p.Leu104=
ENST00000419755.3:c.423G>T	ENSP00000398526.3:p.Leu141=
ENST00000455748.6:c.312G>T	ENSP00000405764.2:p.Leu104=
ENST00000524458.5:c.*19G>T	ENSP00000436195.1:n.*19G>T
ENST00000524705.2:c.33G>T	ENSP00000436927.1:p.Leu11=
ENST00000524907.5:n.302G>T
ENST00000525809.5:c.160-982G>T	ENSP00000431187.1:n.160-982G>T
ENST00000526035.5:c.*19G>T	ENSP00000434197.1:n.*19G>T
ENST00000526760.5:c.*19G>T	ENSP00000432140.1:n.*19G>T
ENST00000527251.5:c.*19G>T	ENSP00000434360.1:n.*19G>T
ENST00000529766.5:n.319G>T
ENST00000529955.5:n.330G>T
ENST00000532908.5:c.*19G>T	ENSP00000431866.1:n.*19G>T
ENST00000533430.5:n.90G>T
ENST00000533557.5:c.*19G>T	ENSP00000434619.1:n.*19G>T
ENST00000533644.5:c.312G>T	ENSP00000436073.1:p.Leu104=
ENST00000534730.5:n.324G>T
ENST00000630659.2:c.*19G>T	ENSP00000486455.1:n.*19G>T
NM_024649.4:c.312G>T	NP_078925.3:p.Leu104=
NM_024649.5:c.312G>T MANE Select	NP_078925.3:p.Leu104=