Canonical Allele Identifier: CA381458860

Gene: BBS1

Linked Data

• MyVariant Identifiers: chr11:g.66287167A>T (hg19) ; chr11:g.66519696A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519696A>T , CM000673.2:g.66519696A>T	GRCh38
NC_000011.9:g.66287167A>T , CM000673.1:g.66287167A>T	GRCh37
NC_000011.8:g.66043743A>T	NCBI36
NG_009093.1:g.14049A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.671A>T MANE Select	ENSP00000317469.7:p.Glu224Val
ENST00000318312.11:c.671A>T	ENSP00000317469.7:p.Glu224Val
ENST00000393994.4:c.671A>T	ENSP00000377563.2:p.Glu224Val
ENST00000419755.3:c.782A>T	ENSP00000398526.3:p.Glu261Val
ENST00000455748.6:c.433-1574A>T	ENSP00000405764.2:n.433-1574A>T
ENST00000524458.5:c.*460A>T	ENSP00000436195.1:n.*460A>T
ENST00000524907.5:n.767A>T
ENST00000525809.5:c.398A>T	ENSP00000431187.1:p.Glu133Val
ENST00000526035.5:c.*374A>T	ENSP00000434197.1:n.*374A>T
ENST00000526760.5:c.*378A>T	ENSP00000432140.1:n.*378A>T
ENST00000527251.5:c.*378A>T	ENSP00000434360.1:n.*378A>T
ENST00000528543.1:n.193A>T
ENST00000529766.5:n.678A>T
ENST00000529953.5:n.323A>T
ENST00000529955.5:n.642A>T
ENST00000532283.1:n.14A>T
ENST00000532908.5:c.*331A>T	ENSP00000431866.1:n.*331A>T
ENST00000533430.5:n.449A>T
ENST00000533557.5:c.*331A>T	ENSP00000434619.1:n.*331A>T
ENST00000533644.5:c.*129A>T	ENSP00000436073.1:n.*129A>T
ENST00000630659.2:c.*378A>T	ENSP00000486455.1:n.*378A>T
NM_024649.4:c.671A>T	NP_078925.3:p.Glu224Val
NM_024649.5:c.671A>T MANE Select	NP_078925.3:p.Glu224Val