Canonical Allele Identifier: CA475368483

Gene: BBS1

Linked Data

• dbSNP Id: rs781144584
• MyVariant Identifiers: chr11:g.66283164G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515693G>C , CM000673.2:g.66515693G>C	GRCh38
NC_000011.9:g.66283164G>C , CM000673.1:g.66283164G>C	GRCh37
NC_000011.8:g.66039740G>C	NCBI36
NG_009093.1:g.10046G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.480G>C MANE Select	ENSP00000317469.7:p.Arg160=
ENST00000318312.11:c.480G>C	ENSP00000317469.7:p.Arg160=
ENST00000393994.4:c.480G>C	ENSP00000377563.2:p.Arg160=
ENST00000419755.3:c.591G>C	ENSP00000398526.3:p.Arg197=
ENST00000455748.6:c.432+1015G>C	ENSP00000405764.2:n.432+1015G>C
ENST00000524458.5:c.*140G>C	ENSP00000436195.1:n.*140G>C
ENST00000524907.5:n.576G>C
ENST00000525809.5:c.207G>C	ENSP00000431187.1:p.Arg69=
ENST00000526035.5:c.*187G>C	ENSP00000434197.1:n.*187G>C
ENST00000526760.5:c.*187G>C	ENSP00000432140.1:n.*187G>C
ENST00000527251.5:c.*187G>C	ENSP00000434360.1:n.*187G>C
ENST00000528543.1:n.2G>C
ENST00000529766.5:n.487G>C
ENST00000529953.5:n.132G>C
ENST00000529955.5:n.451G>C
ENST00000532908.5:c.*140G>C	ENSP00000431866.1:n.*140G>C
ENST00000533430.5:n.258G>C
ENST00000533557.5:c.*140G>C	ENSP00000434619.1:n.*140G>C
ENST00000533644.5:c.433G>C	ENSP00000436073.1:p.Gly145Arg
ENST00000534730.5:n.492G>C
ENST00000630659.2:c.*187G>C	ENSP00000486455.1:n.*187G>C
NM_024649.4:c.480G>C	NP_078925.3:p.Arg160=
NM_024649.5:c.480G>C MANE Select	NP_078925.3:p.Arg160=