Canonical Allele Identifier: CA381457420

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283174G>C (hg19) ; chr11:g.66515703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515703G>C , CM000673.2:g.66515703G>C	GRCh38
NC_000011.9:g.66283174G>C , CM000673.1:g.66283174G>C	GRCh37
NC_000011.8:g.66039750G>C	NCBI36
NG_009093.1:g.10056G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.490G>C MANE Select	ENSP00000317469.7:p.Glu164Gln
ENST00000318312.11:c.490G>C	ENSP00000317469.7:p.Glu164Gln
ENST00000393994.4:c.490G>C	ENSP00000377563.2:p.Glu164Gln
ENST00000419755.3:c.601G>C	ENSP00000398526.3:p.Glu201Gln
ENST00000455748.6:c.432+1025G>C	ENSP00000405764.2:n.432+1025G>C
ENST00000524458.5:c.*150G>C	ENSP00000436195.1:n.*150G>C
ENST00000524907.5:n.586G>C
ENST00000525809.5:c.217G>C	ENSP00000431187.1:p.Glu73Gln
ENST00000526035.5:c.*197G>C	ENSP00000434197.1:n.*197G>C
ENST00000526760.5:c.*197G>C	ENSP00000432140.1:n.*197G>C
ENST00000527251.5:c.*197G>C	ENSP00000434360.1:n.*197G>C
ENST00000528543.1:n.12G>C
ENST00000529766.5:n.497G>C
ENST00000529953.5:n.142G>C
ENST00000529955.5:n.461G>C
ENST00000532908.5:c.*150G>C	ENSP00000431866.1:n.*150G>C
ENST00000533430.5:n.268G>C
ENST00000533557.5:c.*150G>C	ENSP00000434619.1:n.*150G>C
ENST00000533644.5:c.443G>C	ENSP00000436073.1:p.Arg148Thr
ENST00000534730.5:n.502G>C
ENST00000630659.2:c.*197G>C	ENSP00000486455.1:n.*197G>C
NM_024649.4:c.490G>C	NP_078925.3:p.Glu164Gln
NM_024649.5:c.490G>C MANE Select	NP_078925.3:p.Glu164Gln