Canonical Allele Identifier: CA381457367

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283048A>T (hg19) ; chr11:g.66515577A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515577A>T , CM000673.2:g.66515577A>T	GRCh38
NC_000011.9:g.66283048A>T , CM000673.1:g.66283048A>T	GRCh37
NC_000011.8:g.66039624A>T	NCBI36
NG_009093.1:g.9930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.470A>T MANE Select	ENSP00000317469.7:p.Glu157Val
ENST00000318312.11:c.470A>T	ENSP00000317469.7:p.Glu157Val
ENST00000393994.4:c.470A>T	ENSP00000377563.2:p.Glu157Val
ENST00000419755.3:c.581A>T	ENSP00000398526.3:p.Glu194Val
ENST00000455748.6:c.432+899A>T	ENSP00000405764.2:n.432+899A>T
ENST00000524458.5:c.*140-116A>T	ENSP00000436195.1:n.*140-116A>T
ENST00000524705.2:c.191A>T	ENSP00000436927.1:p.Glu64Val
ENST00000524907.5:n.460A>T
ENST00000525809.5:c.197A>T	ENSP00000431187.1:p.Glu66Val
ENST00000526035.5:c.*177A>T	ENSP00000434197.1:n.*177A>T
ENST00000526760.5:c.*177A>T	ENSP00000432140.1:n.*177A>T
ENST00000527251.5:c.*177A>T	ENSP00000434360.1:n.*177A>T
ENST00000529766.5:n.477A>T
ENST00000529953.5:n.122A>T
ENST00000529955.5:n.451-116A>T
ENST00000532908.5:c.*140-116A>T	ENSP00000431866.1:n.*140-116A>T
ENST00000533430.5:n.248A>T
ENST00000533557.5:c.*140-116A>T	ENSP00000434619.1:n.*140-116A>T
ENST00000533644.5:c.433-116A>T	ENSP00000436073.1:n.433-116A>T
ENST00000534730.5:n.482A>T
ENST00000630659.2:c.*177A>T	ENSP00000486455.1:n.*177A>T
NM_024649.4:c.470A>T	NP_078925.3:p.Glu157Val
NM_024649.5:c.470A>T MANE Select	NP_078925.3:p.Glu157Val