Canonical Allele Identifier: CA381422310

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526181T>C , CM000673.2:g.66526181T>C	GRCh38
NC_000011.9:g.66293652T>C , CM000673.1:g.66293652T>C	GRCh37
NC_000011.8:g.66050228T>C	NCBI36
NG_009093.1:g.20534T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.1169T>C (BBS1) MANE Select	NP_078925.3:p.Met390Thr
ENST00000318312.12:c.1169T>C (BBS1) MANE Select	ENSP00000317469.7:p.Met390Thr
NM_001348571.1:c.*21+755A>G (ZDHHC24)	NP_001335500.1:n.*21+755A>G
NM_001348571.2:c.*21+755A>G (ZDHHC24)	NP_001335500.1:n.*21+755A>G
NM_024649.4:c.1169T>C (BBS1)	NP_078925.3:p.Met390Thr
ENST00000318312.11:c.1169T>C (BBS1)	ENSP00000317469.7:p.Met390Thr
ENST00000393994.4:c.782T>C (BBS1)	ENSP00000377563.2:p.Met261Thr
ENST00000419755.3:c.1280T>C	ENSP00000398526.3:p.Met427Thr
ENST00000455748.6:c.878T>C (BBS1)	ENSP00000405764.2:p.Met293Thr
ENST00000526760.5:c.*876T>C (BBS1)	ENSP00000432140.1:n.*876T>C
ENST00000526986.5:c.*21+755A>G (ZDHHC24)	ENSP00000431321.1:n.*21+755A>G
ENST00000527959.1:n.313T>C (BBS1)
ENST00000529766.5:n.1176T>C (BBS1)
ENST00000529955.5:n.1140T>C (BBS1)
ENST00000534073.5:c.*21+755A>G (ZDHHC24)	ENSP00000436503.1:n.*21+755A>G
ENST00000630659.2:c.*876T>C (BBS1)	ENSP00000486455.1:n.*876T>C
XM_005273874.3:c.*21+755A>G (ZDHHC24)	XP_005273931.1:n.*21+755A>G
XM_005273874.4:c.*21+755A>G (ZDHHC24)	XP_005273931.1:n.*21+755A>G
XM_011544894.1:c.*22-621A>G (ZDHHC24)	XP_011543196.1:n.*22-621A>G
XM_011544894.2:c.*22-621A>G (ZDHHC24)	XP_011543196.1:n.*22-621A>G
XM_011544895.1:c.560-1905A>G (ZDHHC24)	XP_011543197.1:n.560-1905A>G
XR_001747823.2:n.741-1905A>G (ZDHHC24)
XR_949860.1:n.686+755A>G (ZDHHC24)
XR_949860.3:n.811+755A>G (ZDHHC24)