Canonical Allele Identifier: CA381456508

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66282009G>C (hg19) ; chr11:g.66514538G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514538G>C , CM000673.2:g.66514538G>C	GRCh38
NC_000011.9:g.66282009G>C , CM000673.1:g.66282009G>C	GRCh37
NC_000011.8:g.66038585G>C	NCBI36
NG_009093.1:g.8891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.292G>C MANE Select	ENSP00000317469.7:p.Glu98Gln
ENST00000318312.11:c.292G>C	ENSP00000317469.7:p.Glu98Gln
ENST00000393994.4:c.292G>C	ENSP00000377563.2:p.Glu98Gln
ENST00000419755.3:c.403G>C	ENSP00000398526.3:p.Glu135Gln
ENST00000455748.6:c.292G>C	ENSP00000405764.2:p.Glu98Gln
ENST00000524458.5:c.167G>C	ENSP00000436195.1:p.Ter56Ser
ENST00000524705.2:c.13G>C	ENSP00000436927.1:p.Glu5Gln
ENST00000524907.5:n.282G>C
ENST00000525809.5:c.160-1002G>C	ENSP00000431187.1:n.160-1002G>C
ENST00000526035.5:c.257G>C	ENSP00000434197.1:p.Ter86Ser
ENST00000526760.5:c.257G>C	ENSP00000432140.1:p.Ter86Ser
ENST00000527251.5:c.167G>C	ENSP00000434360.1:p.Ter56Ser
ENST00000529766.5:n.299G>C
ENST00000529955.5:n.310G>C
ENST00000532908.5:c.257G>C	ENSP00000431866.1:p.Ter86Ser
ENST00000533430.5:n.70G>C
ENST00000533557.5:c.257G>C	ENSP00000434619.1:p.Ter86Ser
ENST00000533644.5:c.292G>C	ENSP00000436073.1:p.Glu98Gln
ENST00000534730.5:n.304G>C
ENST00000630659.2:c.257G>C	ENSP00000486455.1:p.Ter86Ser
NM_024649.4:c.292G>C	NP_078925.3:p.Glu98Gln
NM_024649.5:c.292G>C MANE Select	NP_078925.3:p.Glu98Gln