Canonical Allele Identifier: CA1979711927

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526748T= , CM000673.2:g.66526748T=	GRCh38
NC_000011.9:g.66294219T= , CM000673.1:g.66294219T=	GRCh37
NC_000011.8:g.66050795T=	NCBI36
NG_009093.1:g.21101T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1280T= (BBS1) MANE Select	ENSP00000317469.7:p.Val427=
ENST00000318312.11:c.1280T= (BBS1)	ENSP00000317469.7:p.Val427=
ENST00000393994.4:c.893T= (BBS1)	ENSP00000377563.2:p.Val298=
ENST00000419755.3:c.1391T=	ENSP00000398526.3:p.Val464=
ENST00000455748.6:c.989T= (BBS1)	ENSP00000405764.2:p.Val330=
ENST00000526760.5:c.*987T= (BBS1)	ENSP00000432140.1:n.*987T=
ENST00000526986.5:c.*21+188A= (ZDHHC24)	ENSP00000431321.1:n.*21+188A=
ENST00000527959.1:n.424T= (BBS1)
ENST00000529766.5:n.1287T= (BBS1)
ENST00000529955.5:n.1251T= (BBS1)
ENST00000534073.5:c.*21+188A= (ZDHHC24)	ENSP00000436503.1:n.*21+188A=
ENST00000630659.2:c.*987T= (BBS1)	ENSP00000486455.1:n.*987T=
NM_024649.4:c.1280T= (BBS1)	NP_078925.3:p.Val427=
XM_005273874.3:c.*21+188A= (ZDHHC24)	XP_005273931.1:n.*21+188A=
XM_011544894.1:c.*21+188A= (ZDHHC24)	XP_011543196.1:n.*21+188A=
XM_011544895.1:c.560-2472A= (ZDHHC24)	XP_011543197.1:n.560-2472A=
XR_949860.1:n.686+188A= (ZDHHC24)
NM_001348571.1:c.*21+188A= (ZDHHC24)	NP_001335500.1:n.*21+188A=
XM_005273874.4:c.*21+188A= (ZDHHC24)	XP_005273931.1:n.*21+188A=
XM_011544894.2:c.*21+188A= (ZDHHC24)	XP_011543196.1:n.*21+188A=
XR_001747823.2:n.741-2472A= (ZDHHC24)
XR_949860.3:n.811+188A= (ZDHHC24)
NM_024649.5:c.1280T= (BBS1) MANE Select	NP_078925.3:p.Val427=
NM_001348571.2:c.*21+188A= (ZDHHC24)	NP_001335500.1:n.*21+188A=