Canonical Allele Identifier: CA224073829

Gene: BBS1

Linked Data

• dbSNP Id: rs373250064
• gnomAD v3: 11-66515794-T-C
• gnomAD v4: 11-66515794-T-C
• MyVariant Identifiers: chr11:g.66283265T>C (hg19) ; chr11:g.66515794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515794T>C , CM000673.2:g.66515794T>C	GRCh38
NC_000011.9:g.66283265T>C , CM000673.1:g.66283265T>C	GRCh37
NC_000011.8:g.66039841T>C	NCBI36
NG_009093.1:g.10147T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.518+63T>C MANE Select	ENSP00000317469.7:n.518+63T>C
ENST00000318312.11:c.518+63T>C	ENSP00000317469.7:n.518+63T>C
ENST00000393994.4:c.518+63T>C	ENSP00000377563.2:n.518+63T>C
ENST00000419755.3:c.629+63T>C	ENSP00000398526.3:n.629+63T>C
ENST00000455748.6:c.432+1116T>C	ENSP00000405764.2:n.432+1116T>C
ENST00000524458.5:c.*241T>C	ENSP00000436195.1:n.*241T>C
ENST00000524907.5:n.614+63T>C
ENST00000525809.5:c.245+63T>C	ENSP00000431187.1:n.245+63T>C
ENST00000526035.5:c.*225+63T>C	ENSP00000434197.1:n.*225+63T>C
ENST00000526760.5:c.*225+63T>C	ENSP00000432140.1:n.*225+63T>C
ENST00000527251.5:c.*225+63T>C	ENSP00000434360.1:n.*225+63T>C
ENST00000528543.1:n.40+63T>C
ENST00000529766.5:n.525+63T>C
ENST00000529953.5:n.170+63T>C
ENST00000529955.5:n.489+63T>C
ENST00000532908.5:c.*178+63T>C	ENSP00000431866.1:n.*178+63T>C
ENST00000533430.5:n.296+63T>C
ENST00000533557.5:c.*178+63T>C	ENSP00000434619.1:n.*178+63T>C
ENST00000533644.5:c.471+63T>C	ENSP00000436073.1:n.471+63T>C
ENST00000534730.5:n.593T>C
ENST00000630659.2:c.*225+63T>C	ENSP00000486455.1:n.*225+63T>C
NM_024649.4:c.518+63T>C	NP_078925.3:n.518+63T>C
NM_024649.5:c.518+63T>C MANE Select	NP_078925.3:n.518+63T>C