Canonical Allele Identifier: CA6123599

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 497902
• ClinVar RCV Id: RCV000592292 ; RCV001085017
• dbSNP Id: rs199692416
• ExAC: 11:66291302 A / G
• gnomAD v2: 11-66291302-A-G
• gnomAD v3: 11-66523831-A-G
• gnomAD v4: 11-66523831-A-G
• MyVariant Identifiers: chr11:g.66291302A>G (hg19) ; chr11:g.66523831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523831A>G , CM000673.2:g.66523831A>G	GRCh38
NC_000011.9:g.66291302A>G , CM000673.1:g.66291302A>G	GRCh37
NC_000011.8:g.66047878A>G	NCBI36
NG_009093.1:g.18184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1059A>G (BBS1) MANE Select	ENSP00000317469.7:p.Gly353=
ENST00000318312.11:c.1059A>G (BBS1)	ENSP00000317469.7:p.Gly353=
ENST00000393994.4:c.724-2292A>G (BBS1)	ENSP00000377563.2:n.724-2292A>G
ENST00000419755.3:c.1170A>G	ENSP00000398526.3:p.Gly390=
ENST00000455748.6:c.768A>G (BBS1)	ENSP00000405764.2:p.Gly256=
ENST00000526760.5:c.*766A>G (BBS1)	ENSP00000432140.1:n.*766A>G
ENST00000526986.5:c.*22-2365T>C (ZDHHC24)	ENSP00000431321.1:n.*22-2365T>C
ENST00000527959.1:n.203A>G (BBS1)
ENST00000529766.5:n.1066A>G (BBS1)
ENST00000529895.1:n.508A>G (BBS1)
ENST00000529955.5:n.1030A>G (BBS1)
ENST00000532908.5:c.*719A>G (BBS1)	ENSP00000431866.1:n.*719A>G
ENST00000534073.5:c.*143+324T>C (ZDHHC24)	ENSP00000436503.1:n.*143+324T>C
ENST00000630659.2:c.*766A>G (BBS1)	ENSP00000486455.1:n.*766A>G
NM_024649.4:c.1059A>G (BBS1)	NP_078925.3:p.Gly353=
XM_005273874.3:c.*22-2365T>C (ZDHHC24)	XP_005273931.1:n.*22-2365T>C
XR_949860.1:n.808+324T>C (ZDHHC24)
NM_001348571.1:c.*22-2365T>C (ZDHHC24)	NP_001335500.1:n.*22-2365T>C
XM_005273874.4:c.*22-2365T>C (ZDHHC24)	XP_005273931.1:n.*22-2365T>C
XR_001747823.2:n.862+324T>C (ZDHHC24)
XR_949860.3:n.933+324T>C (ZDHHC24)
NM_024649.5:c.1059A>G (BBS1) MANE Select	NP_078925.3:p.Gly353=
NM_001348571.2:c.*22-2365T>C (ZDHHC24)	NP_001335500.1:n.*22-2365T>C