Canonical Allele Identifier: CA381459059

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66519749G>A , CM000673.2:g.66519749G>A	GRCh38
NC_000011.9:g.66287220G>A , CM000673.1:g.66287220G>A	GRCh37
NC_000011.8:g.66043796G>A	NCBI36
NG_009093.1:g.14102G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.723+1G>A MANE Select	NP_078925.3:n.723+1G>A
ENST00000318312.12:c.723+1G>A MANE Select	ENSP00000317469.7:n.723+1G>A
NM_024649.4:c.723+1G>A	NP_078925.3:n.723+1G>A
ENST00000318312.11:c.723+1G>A	ENSP00000317469.7:n.723+1G>A
ENST00000393994.4:c.723+1G>A	ENSP00000377563.2:n.723+1G>A
ENST00000419755.3:c.834+1G>A	ENSP00000398526.3:n.834+1G>A
ENST00000455748.6:c.433-1521G>A	ENSP00000405764.2:n.433-1521G>A
ENST00000524458.5:c.*512+1G>A	ENSP00000436195.1:n.*512+1G>A
ENST00000524907.5:n.820G>A
ENST00000525809.5:c.450+1G>A	ENSP00000431187.1:n.450+1G>A
ENST00000526035.5:c.*426+1G>A	ENSP00000434197.1:n.*426+1G>A
ENST00000526760.5:c.*430+1G>A	ENSP00000432140.1:n.*430+1G>A
ENST00000528543.1:n.246G>A
ENST00000529766.5:n.730+1G>A
ENST00000529953.5:n.375+1G>A
ENST00000529955.5:n.694+1G>A
ENST00000532283.1:n.66+1G>A
ENST00000532908.5:c.*383+1G>A	ENSP00000431866.1:n.*383+1G>A
ENST00000533430.5:n.501+1G>A
ENST00000533557.5:c.*383+1G>A	ENSP00000434619.1:n.*383+1G>A
ENST00000533644.5:c.*181+1G>A	ENSP00000436073.1:n.*181+1G>A
ENST00000630659.2:c.*430+1G>A	ENSP00000486455.1:n.*430+1G>A