Canonical Allele Identifier: CA1979709811

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523493G= , CM000673.2:g.66523493G=	GRCh38
NC_000011.9:g.66290964G= , CM000673.1:g.66290964G=	GRCh37
NC_000011.8:g.66047540G=	NCBI36
NG_009093.1:g.17846G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.868G= (BBS1) MANE Select	ENSP00000317469.7:p.Ala290=
ENST00000318312.11:c.868G= (BBS1)	ENSP00000317469.7:p.Ala290=
ENST00000393994.4:c.724-2630G= (BBS1)	ENSP00000377563.2:n.724-2630G=
ENST00000419755.3:c.979G=	ENSP00000398526.3:p.Ala327=
ENST00000455748.6:c.577G= (BBS1)	ENSP00000405764.2:p.Ala193=
ENST00000524458.5:c.*657G= (BBS1)	ENSP00000436195.1:n.*657G=
ENST00000524884.1:n.553G= (BBS1)
ENST00000526760.5:c.*575G= (BBS1)	ENSP00000432140.1:n.*575G=
ENST00000526986.5:c.*22-2027C= (ZDHHC24)	ENSP00000431321.1:n.*22-2027C=
ENST00000527959.1:n.12G= (BBS1)
ENST00000529766.5:n.875G= (BBS1)
ENST00000529895.1:n.317G= (BBS1)
ENST00000529955.5:n.839G= (BBS1)
ENST00000532908.5:c.*528G= (BBS1)	ENSP00000431866.1:n.*528G=
ENST00000533557.5:c.*722G= (BBS1)	ENSP00000434619.1:n.*722G=
ENST00000533644.5:c.*326G= (BBS1)	ENSP00000436073.1:n.*326G=
ENST00000534073.5:c.*143+662C= (ZDHHC24)	ENSP00000436503.1:n.*143+662C=
ENST00000630659.2:c.*575G= (BBS1)	ENSP00000486455.1:n.*575G=
NM_024649.4:c.868G= (BBS1)	NP_078925.3:p.Ala290=
XM_005273874.3:c.*22-2027C= (ZDHHC24)	XP_005273931.1:n.*22-2027C=
XR_949860.1:n.808+662C= (ZDHHC24)
NM_001348571.1:c.*22-2027C= (ZDHHC24)	NP_001335500.1:n.*22-2027C=
XM_005273874.4:c.*22-2027C= (ZDHHC24)	XP_005273931.1:n.*22-2027C=
XR_001747823.2:n.862+662C= (ZDHHC24)
XR_949860.3:n.933+662C= (ZDHHC24)
NM_024649.5:c.868G= (BBS1) MANE Select	NP_078925.3:p.Ala290=
NM_001348571.2:c.*22-2027C= (ZDHHC24)	NP_001335500.1:n.*22-2027C=