Canonical Allele Identifier: CA381457203

Gene: BBS1

Linked Data

• ClinVar Variation Id: 1070846
• ClinVar RCV Id: RCV001383137
• dbSNP Id: rs2134771631
• MyVariant Identifiers: chr11:g.66282138C>T (hg19) ; chr11:g.66514667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514667C>T , CM000673.2:g.66514667C>T	GRCh38
NC_000011.9:g.66282138C>T , CM000673.1:g.66282138C>T	GRCh37
NC_000011.8:g.66038714C>T	NCBI36
NG_009093.1:g.9020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.421C>T MANE Select	ENSP00000317469.7:p.Gln141Ter
ENST00000318312.11:c.421C>T	ENSP00000317469.7:p.Gln141Ter
ENST00000393994.4:c.421C>T	ENSP00000377563.2:p.Gln141Ter
ENST00000419755.3:c.532C>T	ENSP00000398526.3:p.Gln178Ter
ENST00000455748.6:c.421C>T	ENSP00000405764.2:p.Gln141Ter
ENST00000524458.5:c.*128C>T	ENSP00000436195.1:n.*128C>T
ENST00000524705.2:c.142C>T	ENSP00000436927.1:p.Gln48Ter
ENST00000524907.5:n.411C>T
ENST00000525809.5:c.160-873C>T	ENSP00000431187.1:n.160-873C>T
ENST00000526035.5:c.*128C>T	ENSP00000434197.1:n.*128C>T
ENST00000526760.5:c.*128C>T	ENSP00000432140.1:n.*128C>T
ENST00000527251.5:c.*128C>T	ENSP00000434360.1:n.*128C>T
ENST00000529766.5:n.428C>T
ENST00000529953.5:n.73C>T
ENST00000529955.5:n.439C>T
ENST00000532908.5:c.*128C>T	ENSP00000431866.1:n.*128C>T
ENST00000533430.5:n.199C>T
ENST00000533557.5:c.*128C>T	ENSP00000434619.1:n.*128C>T
ENST00000533644.5:c.421C>T	ENSP00000436073.1:p.Gln141Ter
ENST00000534730.5:n.433C>T
ENST00000630659.2:c.*128C>T	ENSP00000486455.1:n.*128C>T
NM_024649.4:c.421C>T	NP_078925.3:p.Gln141Ter
NM_024649.5:c.421C>T MANE Select	NP_078925.3:p.Gln141Ter