Canonical Allele Identifier: CA381456102

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1620147
• ClinVar RCV Id: RCV002098951
• dbSNP Id: rs2134771324
• MyVariant Identifiers: chr11:g.66281954A>G (hg19) ; chr11:g.66514483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514483A>G , CM000673.2:g.66514483A>G	GRCh38
NC_000011.9:g.66281954A>G , CM000673.1:g.66281954A>G	GRCh37
NC_000011.8:g.66038530A>G	NCBI36
NG_009093.1:g.8836A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.237A>G MANE Select	ENSP00000317469.7:p.Glu79=
ENST00000318312.11:c.237A>G	ENSP00000317469.7:p.Glu79=
ENST00000393994.4:c.237A>G	ENSP00000377563.2:p.Glu79=
ENST00000419755.3:c.348A>G	ENSP00000398526.3:p.Glu116=
ENST00000455748.6:c.237A>G	ENSP00000405764.2:p.Glu79=
ENST00000524458.5:c.112A>G	ENSP00000436195.1:p.Lys38Glu
ENST00000524705.2:c.-20-23A>G	ENSP00000436927.1:n.-20-23A>G
ENST00000524907.5:n.227A>G
ENST00000525809.5:c.160-1057A>G	ENSP00000431187.1:n.160-1057A>G
ENST00000526035.5:c.202A>G	ENSP00000434197.1:p.Lys68Glu
ENST00000526760.5:c.202A>G	ENSP00000432140.1:p.Lys68Glu
ENST00000526815.5:c.147A>G	ENSP00000436860.1:p.Glu49=
ENST00000527251.5:c.112A>G	ENSP00000434360.1:p.Lys38Glu
ENST00000529766.5:n.244A>G
ENST00000529955.5:n.255A>G
ENST00000532908.5:c.202A>G	ENSP00000431866.1:p.Lys68Glu
ENST00000533430.5:n.15A>G
ENST00000533557.5:c.202A>G	ENSP00000434619.1:p.Lys68Glu
ENST00000533644.5:c.237A>G	ENSP00000436073.1:p.Glu79=
ENST00000534730.5:n.249A>G
ENST00000630659.2:c.202A>G	ENSP00000486455.1:p.Lys68Glu
NM_024649.4:c.237A>G	NP_078925.3:p.Glu79=
NM_024649.5:c.237A>G MANE Select	NP_078925.3:p.Glu79=