Canonical Allele Identifier: CA475368512

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66283188C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515717C>G , CM000673.2:g.66515717C>G	GRCh38
NC_000011.9:g.66283188C>G , CM000673.1:g.66283188C>G	GRCh37
NC_000011.8:g.66039764C>G	NCBI36
NG_009093.1:g.10070C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.504C>G MANE Select	ENSP00000317469.7:p.Ser168=
ENST00000318312.11:c.504C>G	ENSP00000317469.7:p.Ser168=
ENST00000393994.4:c.504C>G	ENSP00000377563.2:p.Ser168=
ENST00000419755.3:c.615C>G	ENSP00000398526.3:p.Ser205=
ENST00000455748.6:c.432+1039C>G	ENSP00000405764.2:n.432+1039C>G
ENST00000524458.5:c.*164C>G	ENSP00000436195.1:n.*164C>G
ENST00000524907.5:n.600C>G
ENST00000525809.5:c.231C>G	ENSP00000431187.1:p.Ser77=
ENST00000526035.5:c.*211C>G	ENSP00000434197.1:n.*211C>G
ENST00000526760.5:c.*211C>G	ENSP00000432140.1:n.*211C>G
ENST00000527251.5:c.*211C>G	ENSP00000434360.1:n.*211C>G
ENST00000528543.1:n.26C>G
ENST00000529766.5:n.511C>G
ENST00000529953.5:n.156C>G
ENST00000529955.5:n.475C>G
ENST00000532908.5:c.*164C>G	ENSP00000431866.1:n.*164C>G
ENST00000533430.5:n.282C>G
ENST00000533557.5:c.*164C>G	ENSP00000434619.1:n.*164C>G
ENST00000533644.5:c.457C>G	ENSP00000436073.1:p.His153Asp
ENST00000534730.5:n.516C>G
ENST00000630659.2:c.*211C>G	ENSP00000486455.1:n.*211C>G
NM_024649.4:c.504C>G	NP_078925.3:p.Ser168=
NM_024649.5:c.504C>G MANE Select	NP_078925.3:p.Ser168=