Canonical Allele Identifier: CA381456012

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1065728
• ClinVar RCV Id: RCV001376387
• dbSNP Id: rs2134771309
• MyVariant Identifiers: chr11:g.66281944T>A (hg19) ; chr11:g.66514473T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514473T>A , CM000673.2:g.66514473T>A	GRCh38
NC_000011.9:g.66281944T>A , CM000673.1:g.66281944T>A	GRCh37
NC_000011.8:g.66038520T>A	NCBI36
NG_009093.1:g.8826T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.227T>A MANE Select	ENSP00000317469.7:p.Val76Glu
ENST00000318312.11:c.227T>A	ENSP00000317469.7:p.Val76Glu
ENST00000393994.4:c.227T>A	ENSP00000377563.2:p.Val76Glu
ENST00000419755.3:c.338T>A	ENSP00000398526.3:p.Val113Glu
ENST00000455748.6:c.227T>A	ENSP00000405764.2:p.Val76Glu
ENST00000524458.5:c.102T>A	ENSP00000436195.1:p.Gly34=
ENST00000524705.2:c.-20-33T>A	ENSP00000436927.1:n.-20-33T>A
ENST00000524907.5:n.217T>A
ENST00000525809.5:c.160-1067T>A	ENSP00000431187.1:n.160-1067T>A
ENST00000526035.5:c.192T>A	ENSP00000434197.1:p.Gly64=
ENST00000526760.5:c.192T>A	ENSP00000432140.1:p.Gly64=
ENST00000526815.5:c.137T>A	ENSP00000436860.1:p.Val46Glu
ENST00000527251.5:c.102T>A	ENSP00000434360.1:p.Gly34=
ENST00000529766.5:n.234T>A
ENST00000529955.5:n.245T>A
ENST00000532908.5:c.192T>A	ENSP00000431866.1:p.Gly64=
ENST00000533430.5:n.5T>A
ENST00000533557.5:c.192T>A	ENSP00000434619.1:p.Gly64=
ENST00000533644.5:c.227T>A	ENSP00000436073.1:p.Val76Glu
ENST00000534730.5:n.239T>A
ENST00000630659.2:c.192T>A	ENSP00000486455.1:p.Gly64=
NM_024649.4:c.227T>A	NP_078925.3:p.Val76Glu
NM_024649.5:c.227T>A MANE Select	NP_078925.3:p.Val76Glu