Canonical Allele Identifier: CA6123441

Gene: BBS1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519694C>T , CM000673.2:g.66519694C>T	GRCh38
NC_000011.9:g.66287165C>T , CM000673.1:g.66287165C>T	GRCh37
NC_000011.8:g.66043741C>T	NCBI36
NG_009093.1:g.14047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.669C>T MANE Select	ENSP00000317469.7:p.Thr223=
ENST00000318312.11:c.669C>T	ENSP00000317469.7:p.Thr223=
ENST00000393994.4:c.669C>T	ENSP00000377563.2:p.Thr223=
ENST00000419755.3:c.780C>T	ENSP00000398526.3:p.Thr260=
ENST00000455748.6:c.433-1576C>T	ENSP00000405764.2:n.433-1576C>T
ENST00000524458.5:c.*458C>T	ENSP00000436195.1:n.*458C>T
ENST00000524907.5:n.765C>T
ENST00000525809.5:c.396C>T	ENSP00000431187.1:p.Thr132=
ENST00000526035.5:c.*372C>T	ENSP00000434197.1:n.*372C>T
ENST00000526760.5:c.*376C>T	ENSP00000432140.1:n.*376C>T
ENST00000527251.5:c.*376C>T	ENSP00000434360.1:n.*376C>T
ENST00000528543.1:n.191C>T
ENST00000529766.5:n.676C>T
ENST00000529953.5:n.321C>T
ENST00000529955.5:n.640C>T
ENST00000532283.1:n.12C>T
ENST00000532908.5:c.*329C>T	ENSP00000431866.1:n.*329C>T
ENST00000533430.5:n.447C>T
ENST00000533557.5:c.*329C>T	ENSP00000434619.1:n.*329C>T
ENST00000533644.5:c.*127C>T	ENSP00000436073.1:n.*127C>T
ENST00000630659.2:c.*376C>T	ENSP00000486455.1:n.*376C>T
NM_024649.4:c.669C>T	NP_078925.3:p.Thr223=
NM_024649.5:c.669C>T MANE Select	NP_078925.3:p.Thr223=