Canonical Allele Identifier: CA381457507

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515868C>T , CM000673.2:g.66515868C>T	GRCh38
NC_000011.9:g.66283339C>T , CM000673.1:g.66283339C>T	GRCh37
NC_000011.8:g.66039915C>T	NCBI36
NG_009093.1:g.10221C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.526C>T MANE Select	NP_078925.3:p.Gln176Ter
ENST00000318312.12:c.526C>T MANE Select	ENSP00000317469.7:p.Gln176Ter
NM_024649.4:c.526C>T	NP_078925.3:p.Gln176Ter
ENST00000318312.11:c.526C>T	ENSP00000317469.7:p.Gln176Ter
ENST00000393994.4:c.526C>T	ENSP00000377563.2:p.Gln176Ter
ENST00000419755.3:c.637C>T	ENSP00000398526.3:p.Gln213Ter
ENST00000455748.6:c.432+1190C>T	ENSP00000405764.2:n.432+1190C>T
ENST00000524458.5:c.*315C>T	ENSP00000436195.1:n.*315C>T
ENST00000524907.5:n.622C>T
ENST00000525809.5:c.253C>T	ENSP00000431187.1:p.Gln85Ter
ENST00000526035.5:c.*233C>T	ENSP00000434197.1:n.*233C>T
ENST00000526760.5:c.*233C>T	ENSP00000432140.1:n.*233C>T
ENST00000527251.5:c.*233C>T	ENSP00000434360.1:n.*233C>T
ENST00000528543.1:n.48C>T
ENST00000529766.5:n.533C>T
ENST00000529953.5:n.178C>T
ENST00000529955.5:n.497C>T
ENST00000532908.5:c.*186C>T	ENSP00000431866.1:n.*186C>T
ENST00000533430.5:n.304C>T
ENST00000533557.5:c.*186C>T	ENSP00000434619.1:n.*186C>T
ENST00000533644.5:c.479C>T	ENSP00000436073.1:p.Ala160Val
ENST00000630659.2:c.*233C>T	ENSP00000486455.1:n.*233C>T