Canonical Allele Identifier: CA6123670

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 305469
• ClinVar RCV Id: RCV000299774 ; RCV001093965 ; RCV003888720
• dbSNP Id: rs200577824
• ExAC: 11:66294133 C / A
• gnomAD v2: 11-66294133-C-A
• gnomAD v3: 11-66526662-C-A
• gnomAD v4: 11-66526662-C-A
• MyVariant Identifiers: chr11:g.66294133C>A (hg19) ; chr11:g.66526662C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526662C>A , CM000673.2:g.66526662C>A	GRCh38
NC_000011.9:g.66294133C>A , CM000673.1:g.66294133C>A	GRCh37
NC_000011.8:g.66050709C>A	NCBI36
NG_009093.1:g.21015C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1194C>A (BBS1) MANE Select	ENSP00000317469.7:p.Ile398=
ENST00000318312.11:c.1194C>A (BBS1)	ENSP00000317469.7:p.Ile398=
ENST00000393994.4:c.807C>A (BBS1)	ENSP00000377563.2:p.Ile269=
ENST00000419755.3:c.1305C>A	ENSP00000398526.3:p.Ile435=
ENST00000455748.6:c.903C>A (BBS1)	ENSP00000405764.2:p.Ile301=
ENST00000526760.5:c.*901C>A (BBS1)	ENSP00000432140.1:n.*901C>A
ENST00000526986.5:c.*21+274G>T (ZDHHC24)	ENSP00000431321.1:n.*21+274G>T
ENST00000527959.1:n.338C>A (BBS1)
ENST00000529766.5:n.1201C>A (BBS1)
ENST00000529955.5:n.1165C>A (BBS1)
ENST00000534073.5:c.*21+274G>T (ZDHHC24)	ENSP00000436503.1:n.*21+274G>T
ENST00000630659.2:c.*901C>A (BBS1)	ENSP00000486455.1:n.*901C>A
NM_024649.4:c.1194C>A (BBS1)	NP_078925.3:p.Ile398=
XM_005273874.3:c.*21+274G>T (ZDHHC24)	XP_005273931.1:n.*21+274G>T
XM_011544894.1:c.*21+274G>T (ZDHHC24)	XP_011543196.1:n.*21+274G>T
XM_011544895.1:c.560-2386G>T (ZDHHC24)	XP_011543197.1:n.560-2386G>T
XR_949860.1:n.686+274G>T (ZDHHC24)
NM_001348571.1:c.*21+274G>T (ZDHHC24)	NP_001335500.1:n.*21+274G>T
XM_005273874.4:c.*21+274G>T (ZDHHC24)	XP_005273931.1:n.*21+274G>T
XM_011544894.2:c.*21+274G>T (ZDHHC24)	XP_011543196.1:n.*21+274G>T
XR_001747823.2:n.741-2386G>T (ZDHHC24)
XR_949860.3:n.811+274G>T (ZDHHC24)
NM_024649.5:c.1194C>A (BBS1) MANE Select	NP_078925.3:p.Ile398=
NM_001348571.2:c.*21+274G>T (ZDHHC24)	NP_001335500.1:n.*21+274G>T