Canonical Allele Identifier: CA381455931

Gene: BBS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66514460A>T , CM000673.2:g.66514460A>T	GRCh38
NC_000011.9:g.66281931A>T , CM000673.1:g.66281931A>T	GRCh37
NC_000011.8:g.66038507A>T	NCBI36
NG_009093.1:g.8813A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.214A>T MANE Select	NP_078925.3:p.Lys72Ter
ENST00000318312.12:c.214A>T MANE Select	ENSP00000317469.7:p.Lys72Ter
NM_024649.4:c.214A>T	NP_078925.3:p.Lys72Ter
ENST00000318312.11:c.214A>T	ENSP00000317469.7:p.Lys72Ter
ENST00000393994.4:c.214A>T	ENSP00000377563.2:p.Lys72Ter
ENST00000419755.3:c.325A>T	ENSP00000398526.3:p.Lys109Ter
ENST00000455748.6:c.214A>T	ENSP00000405764.2:p.Lys72Ter
ENST00000524458.5:c.89A>T	ENSP00000436195.1:p.Gln30Leu
ENST00000524705.2:c.-20-46A>T	ENSP00000436927.1:n.-20-46A>T
ENST00000524907.5:n.204A>T
ENST00000525809.5:c.160-1080A>T	ENSP00000431187.1:n.160-1080A>T
ENST00000526035.5:c.179A>T	ENSP00000434197.1:p.Gln60Leu
ENST00000526760.5:c.179A>T	ENSP00000432140.1:p.Gln60Leu
ENST00000526815.5:c.124A>T	ENSP00000436860.1:p.Lys42Ter
ENST00000527251.5:c.89A>T	ENSP00000434360.1:p.Gln30Leu
ENST00000529766.5:n.221A>T
ENST00000529955.5:n.232A>T
ENST00000532908.5:c.179A>T	ENSP00000431866.1:p.Gln60Leu
ENST00000533557.5:c.179A>T	ENSP00000434619.1:p.Gln60Leu
ENST00000533644.5:c.214A>T	ENSP00000436073.1:p.Lys72Ter
ENST00000534730.5:n.226A>T
ENST00000630659.2:c.179A>T	ENSP00000486455.1:p.Gln60Leu