Canonical Allele Identifier: CA381453724

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66511058G>A , CM000673.2:g.66511058G>A	GRCh38
NC_000011.9:g.66278529G>A , CM000673.1:g.66278529G>A	GRCh37
NC_000011.8:g.66035105G>A	NCBI36
NG_009093.1:g.5411G>A
NG_032068.1:g.35650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.93G>A MANE Select	ENSP00000317469.7:p.Met31Ile
ENST00000318312.11:c.93G>A	ENSP00000317469.7:p.Met31Ile
ENST00000393994.4:c.93G>A	ENSP00000377563.2:p.Met31Ile
ENST00000419755.3:c.204G>A	ENSP00000398526.3:p.Met68Ile
ENST00000455748.6:c.93G>A	ENSP00000405764.2:p.Met31Ile
ENST00000524458.5:c.3G>A	ENSP00000436195.1:p.Met1Ile
ENST00000524705.2:c.-87G>A	ENSP00000436927.1:n.-87G>A
ENST00000524907.5:n.83G>A
ENST00000525809.5:c.93G>A	ENSP00000431187.1:p.Met31Ile
ENST00000526035.5:c.93G>A	ENSP00000434197.1:p.Met31Ile
ENST00000526760.5:c.93G>A	ENSP00000432140.1:p.Met31Ile
ENST00000526815.5:c.3G>A	ENSP00000436860.1:p.Met1Ile
ENST00000527251.5:c.3G>A	ENSP00000434360.1:p.Met1Ile
ENST00000529766.5:n.100G>A
ENST00000529955.5:n.111G>A
ENST00000532908.5:c.93G>A	ENSP00000431866.1:p.Met31Ile
ENST00000533557.5:c.93G>A	ENSP00000434619.1:p.Met31Ile
ENST00000533644.5:c.93G>A	ENSP00000436073.1:p.Met31Ile
ENST00000534730.5:n.105G>A
ENST00000630659.2:c.93G>A	ENSP00000486455.1:p.Met31Ile
NM_024649.4:c.93G>A	NP_078925.3:p.Met31Ile
NM_024649.5:c.93G>A MANE Select	NP_078925.3:p.Met31Ile