Canonical Allele Identifier: CA381453393

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66510708T>C , CM000673.2:g.66510708T>C	GRCh38
NC_000011.9:g.66278179T>C , CM000673.1:g.66278179T>C	GRCh37
NC_000011.8:g.66034755T>C	NCBI36
NG_009093.1:g.5061T>C
NG_032068.1:g.35300T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.47+2T>C MANE Select	NP_078925.3:n.47+2T>C
ENST00000318312.12:c.47+2T>C MANE Select	ENSP00000317469.7:n.47+2T>C
NM_024649.4:c.47+2T>C	NP_078925.3:n.47+2T>C
ENST00000318312.11:c.47+2T>C	ENSP00000317469.7:n.47+2T>C
ENST00000393994.4:c.47+2T>C	ENSP00000377563.2:n.47+2T>C
ENST00000419755.3:c.159-305T>C	ENSP00000398526.3:n.159-305T>C
ENST00000455748.6:c.47+2T>C	ENSP00000405764.2:n.47+2T>C
ENST00000524907.5:n.37+2T>C
ENST00000525809.5:c.47+2T>C	ENSP00000431187.1:n.47+2T>C
ENST00000526035.5:c.47+2T>C	ENSP00000434197.1:n.47+2T>C
ENST00000526760.5:c.47+2T>C	ENSP00000432140.1:n.47+2T>C
ENST00000526815.5:c.-348T>C	ENSP00000436860.1:n.-348T>C
ENST00000527251.5:c.-348T>C	ENSP00000434360.1:n.-348T>C
ENST00000529766.5:n.54+2T>C
ENST00000529955.5:n.65+2T>C
ENST00000532908.5:c.47+2T>C	ENSP00000431866.1:n.47+2T>C
ENST00000533557.5:c.47+2T>C	ENSP00000434619.1:n.47+2T>C
ENST00000533644.5:c.47+2T>C	ENSP00000436073.1:n.47+2T>C
ENST00000534730.5:n.59+2T>C
ENST00000630659.2:c.47+2T>C	ENSP00000486455.1:n.47+2T>C