Canonical Allele Identifier: CA381457434

Gene: BBS1

Linked Data

• gnomAD v4: 11-66515708-G-T
• MyVariant Identifiers: chr11:g.66283179G>T (hg19) ; chr11:g.66515708G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515708G>T , CM000673.2:g.66515708G>T	GRCh38
NC_000011.9:g.66283179G>T , CM000673.1:g.66283179G>T	GRCh37
NC_000011.8:g.66039755G>T	NCBI36
NG_009093.1:g.10061G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.495G>T MANE Select	ENSP00000317469.7:p.Glu165Asp
ENST00000318312.11:c.495G>T	ENSP00000317469.7:p.Glu165Asp
ENST00000393994.4:c.495G>T	ENSP00000377563.2:p.Glu165Asp
ENST00000419755.3:c.606G>T	ENSP00000398526.3:p.Glu202Asp
ENST00000455748.6:c.432+1030G>T	ENSP00000405764.2:n.432+1030G>T
ENST00000524458.5:c.*155G>T	ENSP00000436195.1:n.*155G>T
ENST00000524907.5:n.591G>T
ENST00000525809.5:c.222G>T	ENSP00000431187.1:p.Glu74Asp
ENST00000526035.5:c.*202G>T	ENSP00000434197.1:n.*202G>T
ENST00000526760.5:c.*202G>T	ENSP00000432140.1:n.*202G>T
ENST00000527251.5:c.*202G>T	ENSP00000434360.1:n.*202G>T
ENST00000528543.1:n.17G>T
ENST00000529766.5:n.502G>T
ENST00000529953.5:n.147G>T
ENST00000529955.5:n.466G>T
ENST00000532908.5:c.*155G>T	ENSP00000431866.1:n.*155G>T
ENST00000533430.5:n.273G>T
ENST00000533557.5:c.*155G>T	ENSP00000434619.1:n.*155G>T
ENST00000533644.5:c.448G>T	ENSP00000436073.1:p.Ala150Ser
ENST00000534730.5:n.507G>T
ENST00000630659.2:c.*202G>T	ENSP00000486455.1:n.*202G>T
NM_024649.4:c.495G>T	NP_078925.3:p.Glu165Asp
NM_024649.5:c.495G>T MANE Select	NP_078925.3:p.Glu165Asp