Canonical Allele Identifier: CA1979711815

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526705A= , CM000673.2:g.66526705A=	GRCh38
NC_000011.9:g.66294176A= , CM000673.1:g.66294176A=	GRCh37
NC_000011.8:g.66050752A=	NCBI36
NG_009093.1:g.21058A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1237A= (BBS1) MANE Select	ENSP00000317469.7:p.Ser413=
ENST00000318312.11:c.1237A= (BBS1)	ENSP00000317469.7:p.Ser413=
ENST00000393994.4:c.850A= (BBS1)	ENSP00000377563.2:p.Ser284=
ENST00000419755.3:c.1348A=	ENSP00000398526.3:p.Ser450=
ENST00000455748.6:c.946A= (BBS1)	ENSP00000405764.2:p.Ser316=
ENST00000526760.5:c.*944A= (BBS1)	ENSP00000432140.1:n.*944A=
ENST00000526986.5:c.*21+231T= (ZDHHC24)	ENSP00000431321.1:n.*21+231T=
ENST00000527959.1:n.381A= (BBS1)
ENST00000529766.5:n.1244A= (BBS1)
ENST00000529955.5:n.1208A= (BBS1)
ENST00000534073.5:c.*21+231T= (ZDHHC24)	ENSP00000436503.1:n.*21+231T=
ENST00000630659.2:c.*944A= (BBS1)	ENSP00000486455.1:n.*944A=
NM_024649.4:c.1237A= (BBS1)	NP_078925.3:p.Ser413=
XM_005273874.3:c.*21+231T= (ZDHHC24)	XP_005273931.1:n.*21+231T=
XM_011544894.1:c.*21+231T= (ZDHHC24)	XP_011543196.1:n.*21+231T=
XM_011544895.1:c.560-2429T= (ZDHHC24)	XP_011543197.1:n.560-2429T=
XR_949860.1:n.686+231T= (ZDHHC24)
NM_001348571.1:c.*21+231T= (ZDHHC24)	NP_001335500.1:n.*21+231T=
XM_005273874.4:c.*21+231T= (ZDHHC24)	XP_005273931.1:n.*21+231T=
XM_011544894.2:c.*21+231T= (ZDHHC24)	XP_011543196.1:n.*21+231T=
XR_001747823.2:n.741-2429T= (ZDHHC24)
XR_949860.3:n.811+231T= (ZDHHC24)
NM_024649.5:c.1237A= (BBS1) MANE Select	NP_078925.3:p.Ser413=
NM_001348571.2:c.*21+231T= (ZDHHC24)	NP_001335500.1:n.*21+231T=