Canonical Allele Identifier: CA475368573

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283350A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515879A>T , CM000673.2:g.66515879A>T	GRCh38
NC_000011.9:g.66283350A>T , CM000673.1:g.66283350A>T	GRCh37
NC_000011.8:g.66039926A>T	NCBI36
NG_009093.1:g.10232A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.537A>T MANE Select	ENSP00000317469.7:p.Leu179=
ENST00000318312.11:c.537A>T	ENSP00000317469.7:p.Leu179=
ENST00000393994.4:c.537A>T	ENSP00000377563.2:p.Leu179=
ENST00000419755.3:c.648A>T	ENSP00000398526.3:p.Leu216=
ENST00000455748.6:c.432+1201A>T	ENSP00000405764.2:n.432+1201A>T
ENST00000524458.5:c.*326A>T	ENSP00000436195.1:n.*326A>T
ENST00000524907.5:n.633A>T
ENST00000525809.5:c.264A>T	ENSP00000431187.1:p.Leu88=
ENST00000526035.5:c.*244A>T	ENSP00000434197.1:n.*244A>T
ENST00000526760.5:c.*244A>T	ENSP00000432140.1:n.*244A>T
ENST00000527251.5:c.*244A>T	ENSP00000434360.1:n.*244A>T
ENST00000528543.1:n.59A>T
ENST00000529766.5:n.544A>T
ENST00000529953.5:n.189A>T
ENST00000529955.5:n.508A>T
ENST00000532908.5:c.*197A>T	ENSP00000431866.1:n.*197A>T
ENST00000533430.5:n.315A>T
ENST00000533557.5:c.*197A>T	ENSP00000434619.1:n.*197A>T
ENST00000533644.5:c.490A>T	ENSP00000436073.1:p.Lys164Ter
ENST00000630659.2:c.*244A>T	ENSP00000486455.1:n.*244A>T
NM_024649.4:c.537A>T	NP_078925.3:p.Leu179=
NM_024649.5:c.537A>T MANE Select	NP_078925.3:p.Leu179=