Canonical Allele Identifier: CA6123674

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526673T>C , CM000673.2:g.66526673T>C	GRCh38
NC_000011.9:g.66294144T>C , CM000673.1:g.66294144T>C	GRCh37
NC_000011.8:g.66050720T>C	NCBI36
NG_009093.1:g.21026T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.1205T>C (BBS1) MANE Select	NP_078925.3:p.Leu402Pro
ENST00000318312.12:c.1205T>C (BBS1) MANE Select	ENSP00000317469.7:p.Leu402Pro
NM_001348571.1:c.*21+263A>G (ZDHHC24)	NP_001335500.1:n.*21+263A>G
NM_001348571.2:c.*21+263A>G (ZDHHC24)	NP_001335500.1:n.*21+263A>G
NM_024649.4:c.1205T>C (BBS1)	NP_078925.3:p.Leu402Pro
ENST00000318312.11:c.1205T>C (BBS1)	ENSP00000317469.7:p.Leu402Pro
ENST00000393994.4:c.818T>C (BBS1)	ENSP00000377563.2:p.Leu273Pro
ENST00000419755.3:c.1316T>C	ENSP00000398526.3:p.Leu439Pro
ENST00000455748.6:c.914T>C (BBS1)	ENSP00000405764.2:p.Leu305Pro
ENST00000526760.5:c.*912T>C (BBS1)	ENSP00000432140.1:n.*912T>C
ENST00000526986.5:c.*21+263A>G (ZDHHC24)	ENSP00000431321.1:n.*21+263A>G
ENST00000527959.1:n.349T>C (BBS1)
ENST00000529766.5:n.1212T>C (BBS1)
ENST00000529955.5:n.1176T>C (BBS1)
ENST00000534073.5:c.*21+263A>G (ZDHHC24)	ENSP00000436503.1:n.*21+263A>G
ENST00000630659.2:c.*912T>C (BBS1)	ENSP00000486455.1:n.*912T>C
XM_005273874.3:c.*21+263A>G (ZDHHC24)	XP_005273931.1:n.*21+263A>G
XM_005273874.4:c.*21+263A>G (ZDHHC24)	XP_005273931.1:n.*21+263A>G
XM_011544894.1:c.*21+263A>G (ZDHHC24)	XP_011543196.1:n.*21+263A>G
XM_011544894.2:c.*21+263A>G (ZDHHC24)	XP_011543196.1:n.*21+263A>G
XM_011544895.1:c.560-2397A>G (ZDHHC24)	XP_011543197.1:n.560-2397A>G
XR_001747823.2:n.741-2397A>G (ZDHHC24)
XR_949860.1:n.686+263A>G (ZDHHC24)
XR_949860.3:n.811+263A>G (ZDHHC24)