Canonical Allele Identifier: CA381455793

Gene: BBS1

Linked Data

• ClinVar Variation Id: 990062
• ClinVar RCV Id: RCV001277999
• dbSNP Id: rs1856007679
• MyVariant Identifiers: chr11:g.66281915C>T (hg19) ; chr11:g.66514444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514444C>T , CM000673.2:g.66514444C>T	GRCh38
NC_000011.9:g.66281915C>T , CM000673.1:g.66281915C>T	GRCh37
NC_000011.8:g.66038491C>T	NCBI36
NG_009093.1:g.8797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.198C>T MANE Select	ENSP00000317469.7:p.Pro66=
ENST00000318312.11:c.198C>T	ENSP00000317469.7:p.Pro66=
ENST00000393994.4:c.198C>T	ENSP00000377563.2:p.Pro66=
ENST00000419755.3:c.309C>T	ENSP00000398526.3:p.Pro103=
ENST00000455748.6:c.198C>T	ENSP00000405764.2:p.Pro66=
ENST00000524458.5:c.73C>T	ENSP00000436195.1:p.Pro25Ser
ENST00000524705.2:c.-20-62C>T	ENSP00000436927.1:n.-20-62C>T
ENST00000524907.5:n.188C>T
ENST00000525809.5:c.160-1096C>T	ENSP00000431187.1:n.160-1096C>T
ENST00000526035.5:c.163C>T	ENSP00000434197.1:p.Pro55Ser
ENST00000526760.5:c.163C>T	ENSP00000432140.1:p.Pro55Ser
ENST00000526815.5:c.108C>T	ENSP00000436860.1:p.Pro36=
ENST00000527251.5:c.73C>T	ENSP00000434360.1:p.Pro25Ser
ENST00000529766.5:n.205C>T
ENST00000529955.5:n.216C>T
ENST00000532908.5:c.163C>T	ENSP00000431866.1:p.Pro55Ser
ENST00000533557.5:c.163C>T	ENSP00000434619.1:p.Pro55Ser
ENST00000533644.5:c.198C>T	ENSP00000436073.1:p.Pro66=
ENST00000534730.5:n.210C>T
ENST00000630659.2:c.163C>T	ENSP00000486455.1:p.Pro55Ser
NM_024649.4:c.198C>T	NP_078925.3:p.Pro66=
NM_024649.5:c.198C>T MANE Select	NP_078925.3:p.Pro66=