Canonical Allele Identifier: CA381457647

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515931C>T , CM000673.2:g.66515931C>T	GRCh38
NC_000011.9:g.66283402C>T , CM000673.1:g.66283402C>T	GRCh37
NC_000011.8:g.66039978C>T	NCBI36
NG_009093.1:g.10284C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.589C>T MANE Select	NP_078925.3:p.Gln197Ter
ENST00000318312.12:c.589C>T MANE Select	ENSP00000317469.7:p.Gln197Ter
NM_024649.4:c.589C>T	NP_078925.3:p.Gln197Ter
ENST00000318312.11:c.589C>T	ENSP00000317469.7:p.Gln197Ter
ENST00000393994.4:c.589C>T	ENSP00000377563.2:p.Gln197Ter
ENST00000419755.3:c.700C>T	ENSP00000398526.3:p.Gln234Ter
ENST00000455748.6:c.432+1253C>T	ENSP00000405764.2:n.432+1253C>T
ENST00000524458.5:c.*378C>T	ENSP00000436195.1:n.*378C>T
ENST00000524907.5:n.685C>T
ENST00000525809.5:c.316C>T	ENSP00000431187.1:p.Gln106Ter
ENST00000526035.5:c.*296C>T	ENSP00000434197.1:n.*296C>T
ENST00000526760.5:c.*296C>T	ENSP00000432140.1:n.*296C>T
ENST00000527251.5:c.*296C>T	ENSP00000434360.1:n.*296C>T
ENST00000528543.1:n.111C>T
ENST00000529766.5:n.596C>T
ENST00000529953.5:n.241C>T
ENST00000529955.5:n.560C>T
ENST00000532908.5:c.*249C>T	ENSP00000431866.1:n.*249C>T
ENST00000533430.5:n.367C>T
ENST00000533557.5:c.*249C>T	ENSP00000434619.1:n.*249C>T
ENST00000533644.5:c.*47C>T	ENSP00000436073.1:n.*47C>T
ENST00000630659.2:c.*296C>T	ENSP00000486455.1:n.*296C>T