Canonical Allele Identifier: CA381456039

Gene: BBS1

Linked Data

• ClinVar Variation Id: 852906
• ClinVar RCV Id: RCV001057619
• dbSNP Id: rs377037816
• MyVariant Identifiers: chr11:g.66281947T>C (hg19) ; chr11:g.66514476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514476T>C , CM000673.2:g.66514476T>C	GRCh38
NC_000011.9:g.66281947T>C , CM000673.1:g.66281947T>C	GRCh37
NC_000011.8:g.66038523T>C	NCBI36
NG_009093.1:g.8829T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.230T>C MANE Select	ENSP00000317469.7:p.Met77Thr
ENST00000318312.11:c.230T>C	ENSP00000317469.7:p.Met77Thr
ENST00000393994.4:c.230T>C	ENSP00000377563.2:p.Met77Thr
ENST00000419755.3:c.341T>C	ENSP00000398526.3:p.Met114Thr
ENST00000455748.6:c.230T>C	ENSP00000405764.2:p.Met77Thr
ENST00000524458.5:c.105T>C	ENSP00000436195.1:p.Asp35=
ENST00000524705.2:c.-20-30T>C	ENSP00000436927.1:n.-20-30T>C
ENST00000524907.5:n.220T>C
ENST00000525809.5:c.160-1064T>C	ENSP00000431187.1:n.160-1064T>C
ENST00000526035.5:c.195T>C	ENSP00000434197.1:p.Asp65=
ENST00000526760.5:c.195T>C	ENSP00000432140.1:p.Asp65=
ENST00000526815.5:c.140T>C	ENSP00000436860.1:p.Met47Thr
ENST00000527251.5:c.105T>C	ENSP00000434360.1:p.Asp35=
ENST00000529766.5:n.237T>C
ENST00000529955.5:n.248T>C
ENST00000532908.5:c.195T>C	ENSP00000431866.1:p.Asp65=
ENST00000533430.5:n.8T>C
ENST00000533557.5:c.195T>C	ENSP00000434619.1:p.Asp65=
ENST00000533644.5:c.230T>C	ENSP00000436073.1:p.Met77Thr
ENST00000534730.5:n.242T>C
ENST00000630659.2:c.195T>C	ENSP00000486455.1:p.Asp65=
NM_024649.4:c.230T>C	NP_078925.3:p.Met77Thr
NM_024649.5:c.230T>C MANE Select	NP_078925.3:p.Met77Thr