Canonical Allele Identifier: CA381457564

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283363G>C (hg19) ; chr11:g.66515892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515892G>C , CM000673.2:g.66515892G>C	GRCh38
NC_000011.9:g.66283363G>C , CM000673.1:g.66283363G>C	GRCh37
NC_000011.8:g.66039939G>C	NCBI36
NG_009093.1:g.10245G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.550G>C MANE Select	ENSP00000317469.7:p.Ala184Pro
ENST00000318312.11:c.550G>C	ENSP00000317469.7:p.Ala184Pro
ENST00000393994.4:c.550G>C	ENSP00000377563.2:p.Ala184Pro
ENST00000419755.3:c.661G>C	ENSP00000398526.3:p.Ala221Pro
ENST00000455748.6:c.432+1214G>C	ENSP00000405764.2:n.432+1214G>C
ENST00000524458.5:c.*339G>C	ENSP00000436195.1:n.*339G>C
ENST00000524907.5:n.646G>C
ENST00000525809.5:c.277G>C	ENSP00000431187.1:p.Ala93Pro
ENST00000526035.5:c.*257G>C	ENSP00000434197.1:n.*257G>C
ENST00000526760.5:c.*257G>C	ENSP00000432140.1:n.*257G>C
ENST00000527251.5:c.*257G>C	ENSP00000434360.1:n.*257G>C
ENST00000528543.1:n.72G>C
ENST00000529766.5:n.557G>C
ENST00000529953.5:n.202G>C
ENST00000529955.5:n.521G>C
ENST00000532908.5:c.*210G>C	ENSP00000431866.1:n.*210G>C
ENST00000533430.5:n.328G>C
ENST00000533557.5:c.*210G>C	ENSP00000434619.1:n.*210G>C
ENST00000533644.5:c.*8G>C	ENSP00000436073.1:n.*8G>C
ENST00000630659.2:c.*257G>C	ENSP00000486455.1:n.*257G>C
NM_024649.4:c.550G>C	NP_078925.3:p.Ala184Pro
NM_024649.5:c.550G>C MANE Select	NP_078925.3:p.Ala184Pro