Canonical Allele Identifier: CA2574887226

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515524T>C , CM000673.2:g.66515524T>C	GRCh38
NC_000011.9:g.66282995T>C , CM000673.1:g.66282995T>C	GRCh37
NC_000011.8:g.66039571T>C	NCBI36
NG_009093.1:g.9877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.433-16T>C MANE Select	ENSP00000317469.7:n.433-16T>C
ENST00000318312.11:c.433-16T>C	ENSP00000317469.7:n.433-16T>C
ENST00000393994.4:c.433-16T>C	ENSP00000377563.2:n.433-16T>C
ENST00000419755.3:c.544-16T>C	ENSP00000398526.3:n.544-16T>C
ENST00000455748.6:c.432+846T>C	ENSP00000405764.2:n.432+846T>C
ENST00000524458.5:c.*140-169T>C	ENSP00000436195.1:n.*140-169T>C
ENST00000524705.2:c.154-16T>C	ENSP00000436927.1:n.154-16T>C
ENST00000524907.5:n.423-16T>C
ENST00000525809.5:c.160-16T>C	ENSP00000431187.1:n.160-16T>C
ENST00000526035.5:c.*140-16T>C	ENSP00000434197.1:n.*140-16T>C
ENST00000526760.5:c.*140-16T>C	ENSP00000432140.1:n.*140-16T>C
ENST00000527251.5:c.*140-16T>C	ENSP00000434360.1:n.*140-16T>C
ENST00000529766.5:n.440-16T>C
ENST00000529953.5:n.85-16T>C
ENST00000529955.5:n.451-169T>C
ENST00000532908.5:c.*140-169T>C	ENSP00000431866.1:n.*140-169T>C
ENST00000533430.5:n.211-16T>C
ENST00000533557.5:c.*140-169T>C	ENSP00000434619.1:n.*140-169T>C
ENST00000533644.5:c.433-169T>C	ENSP00000436073.1:n.433-169T>C
ENST00000534730.5:n.445-16T>C
ENST00000630659.2:c.*140-16T>C	ENSP00000486455.1:n.*140-16T>C
NM_024649.4:c.433-16T>C	NP_078925.3:n.433-16T>C
NM_024649.5:c.433-16T>C MANE Select	NP_078925.3:n.433-16T>C