Canonical Allele Identifier: CA6123897

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 305474
• ClinVar RCV Id: RCV000709657 ; RCV003897694
• dbSNP Id: rs765633556
• ExAC: 11:66299518 T / A
• gnomAD v2: 11-66299518-T-A
• gnomAD v3: 11-66532047-T-A
• gnomAD v4: 11-66532047-T-A
• MyVariant Identifiers: chr11:g.66299518T>A (hg19) ; chr11:g.66532047T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66532047T>A , CM000673.2:g.66532047T>A	GRCh38
NC_000011.9:g.66299518T>A , CM000673.1:g.66299518T>A	GRCh37
NC_000011.8:g.66056094T>A	NCBI36
NG_009093.1:g.26400T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.*10T>A (BBS1) MANE Select	ENSP00000317469.7:n.*10T>A
ENST00000318312.11:c.*10T>A (BBS1)	ENSP00000317469.7:n.*10T>A
ENST00000393994.4:c.*272T>A (BBS1)	ENSP00000377563.2:n.*272T>A
ENST00000419755.3:c.*10T>A	ENSP00000398526.3:n.*10T>A
ENST00000455748.6:c.*10T>A (BBS1)	ENSP00000405764.2:n.*10T>A
ENST00000526760.5:c.*1707T>A (BBS1)	ENSP00000432140.1:n.*1707T>A
ENST00000526986.5:c.560-2559A>T (ZDHHC24)	ENSP00000431321.1:n.560-2559A>T
ENST00000529955.5:n.1971T>A (BBS1)
ENST00000534073.5:c.560-5041A>T (ZDHHC24)	ENSP00000436503.1:n.560-5041A>T
ENST00000630659.2:c.*1499T>A (BBS1)	ENSP00000486455.1:n.*1499T>A
NM_024649.4:c.*10T>A (BBS1)	NP_078925.3:n.*10T>A
XM_005273874.3:c.560-5041A>T (ZDHHC24)	XP_005273931.1:n.560-5041A>T
XM_011544891.1:c.560-2559A>T (ZDHHC24)	XP_011543193.1:n.560-2559A>T
XM_011544894.1:c.560-5041A>T (ZDHHC24)	XP_011543196.1:n.560-5041A>T
XM_011544895.1:c.560-7771A>T (ZDHHC24)	XP_011543197.1:n.560-7771A>T
XR_949860.1:n.616-5041A>T (ZDHHC24)
NM_001348571.1:c.560-2559A>T (ZDHHC24)	NP_001335500.1:n.560-2559A>T
XM_005273874.4:c.560-5041A>T (ZDHHC24)	XP_005273931.1:n.560-5041A>T
XM_011544894.2:c.560-5041A>T (ZDHHC24)	XP_011543196.1:n.560-5041A>T
XR_001747823.2:n.741-7771A>T (ZDHHC24)
XR_949860.3:n.741-5041A>T (ZDHHC24)
NM_024649.5:c.*10T>A (BBS1) MANE Select	NP_078925.3:n.*10T>A
NM_001348571.2:c.560-2559A>T (ZDHHC24)	NP_001335500.1:n.560-2559A>T