Canonical Allele Identifier: CA475368379

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66511212A>G , CM000673.2:g.66511212A>G	GRCh38
NC_000011.9:g.66278683A>G , CM000673.1:g.66278683A>G	GRCh37
NC_000011.8:g.66035259A>G	NCBI36
NG_009093.1:g.5565A>G
NG_032068.1:g.35804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.132A>G MANE Select	ENSP00000317469.7:p.Ala44=
ENST00000318312.11:c.132A>G	ENSP00000317469.7:p.Ala44=
ENST00000393994.4:c.132A>G	ENSP00000377563.2:p.Ala44=
ENST00000419755.3:c.243A>G	ENSP00000398526.3:p.Ala81=
ENST00000455748.6:c.132A>G	ENSP00000405764.2:p.Ala44=
ENST00000524458.5:c.34+123A>G	ENSP00000436195.1:n.34+123A>G
ENST00000524705.2:c.-48A>G	ENSP00000436927.1:n.-48A>G
ENST00000524907.5:n.122A>G
ENST00000525809.5:c.132A>G	ENSP00000431187.1:p.Ala44=
ENST00000526035.5:c.124+123A>G	ENSP00000434197.1:n.124+123A>G
ENST00000526760.5:c.124+123A>G	ENSP00000432140.1:n.124+123A>G
ENST00000526815.5:c.42A>G	ENSP00000436860.1:p.Ala14=
ENST00000527251.5:c.34+123A>G	ENSP00000434360.1:n.34+123A>G
ENST00000529766.5:n.139A>G
ENST00000529955.5:n.150A>G
ENST00000532908.5:c.124+123A>G	ENSP00000431866.1:n.124+123A>G
ENST00000533557.5:c.124+123A>G	ENSP00000434619.1:n.124+123A>G
ENST00000533644.5:c.132A>G	ENSP00000436073.1:p.Ala44=
ENST00000534730.5:n.144A>G
ENST00000630659.2:c.124+123A>G	ENSP00000486455.1:n.124+123A>G
NM_024649.4:c.132A>G	NP_078925.3:p.Ala44=
NM_024649.5:c.132A>G MANE Select	NP_078925.3:p.Ala44=