Canonical Allele Identifier: CA223760

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 12143
• ClinVar RCV Id: RCV000012926 ; RCV000082202 ; RCV000174408 ; RCV000210319 ; RCV000504693 ; RCV000787785 ; RCV002251900 ; RCV002513000 ; RCV003390672
• dbSNP Id: rs113624356
• ExAC: 11:66293652 T / G
• gnomAD v2: 11-66293652-T-G
• gnomAD v3: 11-66526181-T-G
• gnomAD v4: 11-66526181-T-G
• MyVariant Identifiers: chr11:g.66293652T>G (hg19) ; chr11:g.66526181T>G (hg38)
• PubMed: PMID:12118255 ; PMID:12524598 ; PMID:12677556 ; PMID:12837689 ; PMID:15314642 ; PMID:17980398 ; PMID:18032602 ; PMID:20498079 ; PMID:21052717 ; PMID:21642631 ; PMID:22940089 ; PMID:23847139 ; PMID:23891399 ; PMID:26872967 ; PMID:27032803 ; PMID:28041643

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1169T>G (BBS1) MANE Select	ENSP00000317469.7:p.Met390Arg
ENST00000318312.11:c.1169T>G (BBS1)	ENSP00000317469.7:p.Met390Arg
ENST00000393994.4:c.782T>G (BBS1)	ENSP00000377563.2:p.Met261Arg
ENST00000419755.3:c.1280T>G	ENSP00000398526.3:p.Met427Arg
ENST00000455748.6:c.878T>G (BBS1)	ENSP00000405764.2:p.Met293Arg
ENST00000526760.5:c.*876T>G (BBS1)	ENSP00000432140.1:n.*876T>G
ENST00000526986.5:c.*21+755A>C (ZDHHC24)	ENSP00000431321.1:n.*21+755A>C
ENST00000527959.1:n.313T>G (BBS1)
ENST00000529766.5:n.1176T>G (BBS1)
ENST00000529955.5:n.1140T>G (BBS1)
ENST00000534073.5:c.*21+755A>C (ZDHHC24)	ENSP00000436503.1:n.*21+755A>C
ENST00000630659.2:c.*876T>G (BBS1)	ENSP00000486455.1:n.*876T>G
NM_024649.4:c.1169T>G (BBS1)	NP_078925.3:p.Met390Arg
XM_005273874.3:c.*21+755A>C (ZDHHC24)	XP_005273931.1:n.*21+755A>C
XM_011544894.1:c.*22-621A>C (ZDHHC24)	XP_011543196.1:n.*22-621A>C
XM_011544895.1:c.560-1905A>C (ZDHHC24)	XP_011543197.1:n.560-1905A>C
XR_949860.1:n.686+755A>C (ZDHHC24)
NM_001348571.1:c.*21+755A>C (ZDHHC24)	NP_001335500.1:n.*21+755A>C
XM_005273874.4:c.*21+755A>C (ZDHHC24)	XP_005273931.1:n.*21+755A>C
XM_011544894.2:c.*22-621A>C (ZDHHC24)	XP_011543196.1:n.*22-621A>C
XR_001747823.2:n.741-1905A>C (ZDHHC24)
XR_949860.3:n.811+755A>C (ZDHHC24)
NM_024649.5:c.1169T>G (BBS1) MANE Select	NP_078925.3:p.Met390Arg
NM_001348571.2:c.*21+755A>C (ZDHHC24)	NP_001335500.1:n.*21+755A>C