Canonical Allele Identifier: CA1979711846

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526711G= , CM000673.2:g.66526711G=	GRCh38
NC_000011.9:g.66294182G= , CM000673.1:g.66294182G=	GRCh37
NC_000011.8:g.66050758G=	NCBI36
NG_009093.1:g.21064G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1243G= (BBS1) MANE Select	ENSP00000317469.7:p.Val415=
ENST00000318312.11:c.1243G= (BBS1)	ENSP00000317469.7:p.Val415=
ENST00000393994.4:c.856G= (BBS1)	ENSP00000377563.2:p.Val286=
ENST00000419755.3:c.1354G=	ENSP00000398526.3:p.Val452=
ENST00000455748.6:c.952G= (BBS1)	ENSP00000405764.2:p.Val318=
ENST00000526760.5:c.*950G= (BBS1)	ENSP00000432140.1:n.*950G=
ENST00000526986.5:c.*21+225C= (ZDHHC24)	ENSP00000431321.1:n.*21+225C=
ENST00000527959.1:n.387G= (BBS1)
ENST00000529766.5:n.1250G= (BBS1)
ENST00000529955.5:n.1214G= (BBS1)
ENST00000534073.5:c.*21+225C= (ZDHHC24)	ENSP00000436503.1:n.*21+225C=
ENST00000630659.2:c.*950G= (BBS1)	ENSP00000486455.1:n.*950G=
NM_024649.4:c.1243G= (BBS1)	NP_078925.3:p.Val415=
XM_005273874.3:c.*21+225C= (ZDHHC24)	XP_005273931.1:n.*21+225C=
XM_011544894.1:c.*21+225C= (ZDHHC24)	XP_011543196.1:n.*21+225C=
XM_011544895.1:c.560-2435C= (ZDHHC24)	XP_011543197.1:n.560-2435C=
XR_949860.1:n.686+225C= (ZDHHC24)
NM_001348571.1:c.*21+225C= (ZDHHC24)	NP_001335500.1:n.*21+225C=
XM_005273874.4:c.*21+225C= (ZDHHC24)	XP_005273931.1:n.*21+225C=
XM_011544894.2:c.*21+225C= (ZDHHC24)	XP_011543196.1:n.*21+225C=
XR_001747823.2:n.741-2435C= (ZDHHC24)
XR_949860.3:n.811+225C= (ZDHHC24)
NM_024649.5:c.1243G= (BBS1) MANE Select	NP_078925.3:p.Val415=
NM_001348571.2:c.*21+225C= (ZDHHC24)	NP_001335500.1:n.*21+225C=