Canonical Allele Identifier: CA599875522

Gene: BBS1

Linked Data

• dbSNP Id: rs1463400425
• gnomAD v2: 11-66283243-G-A
• MyVariant Identifiers: chr11:g.66283243G>A (hg19) ; chr11:g.66515772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515772G>A , CM000673.2:g.66515772G>A	GRCh38
NC_000011.9:g.66283243G>A , CM000673.1:g.66283243G>A	GRCh37
NC_000011.8:g.66039819G>A	NCBI36
NG_009093.1:g.10125G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.518+41G>A MANE Select	ENSP00000317469.7:n.518+41G>A
ENST00000318312.11:c.518+41G>A	ENSP00000317469.7:n.518+41G>A
ENST00000393994.4:c.518+41G>A	ENSP00000377563.2:n.518+41G>A
ENST00000419755.3:c.629+41G>A	ENSP00000398526.3:n.629+41G>A
ENST00000455748.6:c.432+1094G>A	ENSP00000405764.2:n.432+1094G>A
ENST00000524458.5:c.*219G>A	ENSP00000436195.1:n.*219G>A
ENST00000524907.5:n.614+41G>A
ENST00000525809.5:c.245+41G>A	ENSP00000431187.1:n.245+41G>A
ENST00000526035.5:c.*225+41G>A	ENSP00000434197.1:n.*225+41G>A
ENST00000526760.5:c.*225+41G>A	ENSP00000432140.1:n.*225+41G>A
ENST00000527251.5:c.*225+41G>A	ENSP00000434360.1:n.*225+41G>A
ENST00000528543.1:n.40+41G>A
ENST00000529766.5:n.525+41G>A
ENST00000529953.5:n.170+41G>A
ENST00000529955.5:n.489+41G>A
ENST00000532908.5:c.*178+41G>A	ENSP00000431866.1:n.*178+41G>A
ENST00000533430.5:n.296+41G>A
ENST00000533557.5:c.*178+41G>A	ENSP00000434619.1:n.*178+41G>A
ENST00000533644.5:c.471+41G>A	ENSP00000436073.1:n.471+41G>A
ENST00000534730.5:n.571G>A
ENST00000630659.2:c.*225+41G>A	ENSP00000486455.1:n.*225+41G>A
NM_024649.4:c.518+41G>A	NP_078925.3:n.518+41G>A
NM_024649.5:c.518+41G>A MANE Select	NP_078925.3:n.518+41G>A