Canonical Allele Identifier: CA381456072

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1125950
• ClinVar RCV Id: RCV001457832
• dbSNP Id: rs748732460
• MyVariant Identifiers: chr11:g.66281951C>G (hg19) ; chr11:g.66514480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514480C>G , CM000673.2:g.66514480C>G	GRCh38
NC_000011.9:g.66281951C>G , CM000673.1:g.66281951C>G	GRCh37
NC_000011.8:g.66038527C>G	NCBI36
NG_009093.1:g.8833C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.234C>G MANE Select	ENSP00000317469.7:p.Thr78=
ENST00000318312.11:c.234C>G	ENSP00000317469.7:p.Thr78=
ENST00000393994.4:c.234C>G	ENSP00000377563.2:p.Thr78=
ENST00000419755.3:c.345C>G	ENSP00000398526.3:p.Thr115=
ENST00000455748.6:c.234C>G	ENSP00000405764.2:p.Thr78=
ENST00000524458.5:c.109C>G	ENSP00000436195.1:p.Arg37Gly
ENST00000524705.2:c.-20-26C>G	ENSP00000436927.1:n.-20-26C>G
ENST00000524907.5:n.224C>G
ENST00000525809.5:c.160-1060C>G	ENSP00000431187.1:n.160-1060C>G
ENST00000526035.5:c.199C>G	ENSP00000434197.1:p.Arg67Gly
ENST00000526760.5:c.199C>G	ENSP00000432140.1:p.Arg67Gly
ENST00000526815.5:c.144C>G	ENSP00000436860.1:p.Thr48=
ENST00000527251.5:c.109C>G	ENSP00000434360.1:p.Arg37Gly
ENST00000529766.5:n.241C>G
ENST00000529955.5:n.252C>G
ENST00000532908.5:c.199C>G	ENSP00000431866.1:p.Arg67Gly
ENST00000533430.5:n.12C>G
ENST00000533557.5:c.199C>G	ENSP00000434619.1:p.Arg67Gly
ENST00000533644.5:c.234C>G	ENSP00000436073.1:p.Thr78=
ENST00000534730.5:n.246C>G
ENST00000630659.2:c.199C>G	ENSP00000486455.1:p.Arg67Gly
NM_024649.4:c.234C>G	NP_078925.3:p.Thr78=
NM_024649.5:c.234C>G MANE Select	NP_078925.3:p.Thr78=