Canonical Allele Identifier: CA381458968

Gene: BBS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519725G>T , CM000673.2:g.66519725G>T	GRCh38
NC_000011.9:g.66287196G>T , CM000673.1:g.66287196G>T	GRCh37
NC_000011.8:g.66043772G>T	NCBI36
NG_009093.1:g.14078G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.700G>T MANE Select	ENSP00000317469.7:p.Glu234Ter
ENST00000318312.11:c.700G>T	ENSP00000317469.7:p.Glu234Ter
ENST00000393994.4:c.700G>T	ENSP00000377563.2:p.Glu234Ter
ENST00000419755.3:c.811G>T	ENSP00000398526.3:p.Glu271Ter
ENST00000455748.6:c.433-1545G>T	ENSP00000405764.2:n.433-1545G>T
ENST00000524458.5:c.*489G>T	ENSP00000436195.1:n.*489G>T
ENST00000524907.5:n.796G>T
ENST00000525809.5:c.427G>T	ENSP00000431187.1:p.Glu143Ter
ENST00000526035.5:c.*403G>T	ENSP00000434197.1:n.*403G>T
ENST00000526760.5:c.*407G>T	ENSP00000432140.1:n.*407G>T
ENST00000527251.5:c.*407G>T	ENSP00000434360.1:n.*407G>T
ENST00000528543.1:n.222G>T
ENST00000529766.5:n.707G>T
ENST00000529953.5:n.352G>T
ENST00000529955.5:n.671G>T
ENST00000532283.1:n.43G>T
ENST00000532908.5:c.*360G>T	ENSP00000431866.1:n.*360G>T
ENST00000533430.5:n.478G>T
ENST00000533557.5:c.*360G>T	ENSP00000434619.1:n.*360G>T
ENST00000533644.5:c.*158G>T	ENSP00000436073.1:n.*158G>T
ENST00000630659.2:c.*407G>T	ENSP00000486455.1:n.*407G>T
NM_024649.4:c.700G>T	NP_078925.3:p.Glu234Ter
NM_024649.5:c.700G>T MANE Select	NP_078925.3:p.Glu234Ter