Canonical Allele Identifier: CA475368492

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283173A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515702A>C , CM000673.2:g.66515702A>C	GRCh38
NC_000011.9:g.66283173A>C , CM000673.1:g.66283173A>C	GRCh37
NC_000011.8:g.66039749A>C	NCBI36
NG_009093.1:g.10055A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.489A>C MANE Select	ENSP00000317469.7:p.Ala163=
ENST00000318312.11:c.489A>C	ENSP00000317469.7:p.Ala163=
ENST00000393994.4:c.489A>C	ENSP00000377563.2:p.Ala163=
ENST00000419755.3:c.600A>C	ENSP00000398526.3:p.Ala200=
ENST00000455748.6:c.432+1024A>C	ENSP00000405764.2:n.432+1024A>C
ENST00000524458.5:c.*149A>C	ENSP00000436195.1:n.*149A>C
ENST00000524907.5:n.585A>C
ENST00000525809.5:c.216A>C	ENSP00000431187.1:p.Ala72=
ENST00000526035.5:c.*196A>C	ENSP00000434197.1:n.*196A>C
ENST00000526760.5:c.*196A>C	ENSP00000432140.1:n.*196A>C
ENST00000527251.5:c.*196A>C	ENSP00000434360.1:n.*196A>C
ENST00000528543.1:n.11A>C
ENST00000529766.5:n.496A>C
ENST00000529953.5:n.141A>C
ENST00000529955.5:n.460A>C
ENST00000532908.5:c.*149A>C	ENSP00000431866.1:n.*149A>C
ENST00000533430.5:n.267A>C
ENST00000533557.5:c.*149A>C	ENSP00000434619.1:n.*149A>C
ENST00000533644.5:c.442A>C	ENSP00000436073.1:p.Arg148=
ENST00000534730.5:n.501A>C
ENST00000630659.2:c.*196A>C	ENSP00000486455.1:n.*196A>C
NM_024649.4:c.489A>C	NP_078925.3:p.Ala163=
NM_024649.5:c.489A>C MANE Select	NP_078925.3:p.Ala163=