Canonical Allele Identifier: CA381457416

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283172C>A (hg19) ; chr11:g.66515701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515701C>A , CM000673.2:g.66515701C>A	GRCh38
NC_000011.9:g.66283172C>A , CM000673.1:g.66283172C>A	GRCh37
NC_000011.8:g.66039748C>A	NCBI36
NG_009093.1:g.10054C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.488C>A MANE Select	ENSP00000317469.7:p.Ala163Glu
ENST00000318312.11:c.488C>A	ENSP00000317469.7:p.Ala163Glu
ENST00000393994.4:c.488C>A	ENSP00000377563.2:p.Ala163Glu
ENST00000419755.3:c.599C>A	ENSP00000398526.3:p.Ala200Glu
ENST00000455748.6:c.432+1023C>A	ENSP00000405764.2:n.432+1023C>A
ENST00000524458.5:c.*148C>A	ENSP00000436195.1:n.*148C>A
ENST00000524907.5:n.584C>A
ENST00000525809.5:c.215C>A	ENSP00000431187.1:p.Ala72Glu
ENST00000526035.5:c.*195C>A	ENSP00000434197.1:n.*195C>A
ENST00000526760.5:c.*195C>A	ENSP00000432140.1:n.*195C>A
ENST00000527251.5:c.*195C>A	ENSP00000434360.1:n.*195C>A
ENST00000528543.1:n.10C>A
ENST00000529766.5:n.495C>A
ENST00000529953.5:n.140C>A
ENST00000529955.5:n.459C>A
ENST00000532908.5:c.*148C>A	ENSP00000431866.1:n.*148C>A
ENST00000533430.5:n.266C>A
ENST00000533557.5:c.*148C>A	ENSP00000434619.1:n.*148C>A
ENST00000533644.5:c.441C>A	ENSP00000436073.1:p.Gly147=
ENST00000534730.5:n.500C>A
ENST00000630659.2:c.*195C>A	ENSP00000486455.1:n.*195C>A
NM_024649.4:c.488C>A	NP_078925.3:p.Ala163Glu
NM_024649.5:c.488C>A MANE Select	NP_078925.3:p.Ala163Glu