Canonical Allele Identifier: CA381462159

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs1856357095
• gnomAD v3: 11-66523760-A-G
• gnomAD v4: 11-66523760-A-G
• MyVariant Identifiers: chr11:g.66291231A>G (hg19) ; chr11:g.66523760A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523760A>G , CM000673.2:g.66523760A>G	GRCh38
NC_000011.9:g.66291231A>G , CM000673.1:g.66291231A>G	GRCh37
NC_000011.8:g.66047807A>G	NCBI36
NG_009093.1:g.18113A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.988A>G (BBS1) MANE Select	ENSP00000317469.7:p.Ile330Val
ENST00000318312.11:c.988A>G (BBS1)	ENSP00000317469.7:p.Ile330Val
ENST00000393994.4:c.724-2363A>G (BBS1)	ENSP00000377563.2:n.724-2363A>G
ENST00000419755.3:c.1099A>G	ENSP00000398526.3:p.Ile367Val
ENST00000455748.6:c.697A>G (BBS1)	ENSP00000405764.2:p.Ile233Val
ENST00000526760.5:c.*695A>G (BBS1)	ENSP00000432140.1:n.*695A>G
ENST00000526986.5:c.*22-2294T>C (ZDHHC24)	ENSP00000431321.1:n.*22-2294T>C
ENST00000527959.1:n.132A>G (BBS1)
ENST00000529766.5:n.995A>G (BBS1)
ENST00000529895.1:n.437A>G (BBS1)
ENST00000529955.5:n.959A>G (BBS1)
ENST00000532908.5:c.*648A>G (BBS1)	ENSP00000431866.1:n.*648A>G
ENST00000534073.5:c.*143+395T>C (ZDHHC24)	ENSP00000436503.1:n.*143+395T>C
ENST00000630659.2:c.*695A>G (BBS1)	ENSP00000486455.1:n.*695A>G
NM_024649.4:c.988A>G (BBS1)	NP_078925.3:p.Ile330Val
XM_005273874.3:c.*22-2294T>C (ZDHHC24)	XP_005273931.1:n.*22-2294T>C
XR_949860.1:n.808+395T>C (ZDHHC24)
NM_001348571.1:c.*22-2294T>C (ZDHHC24)	NP_001335500.1:n.*22-2294T>C
XM_005273874.4:c.*22-2294T>C (ZDHHC24)	XP_005273931.1:n.*22-2294T>C
XR_001747823.2:n.862+395T>C (ZDHHC24)
XR_949860.3:n.933+395T>C (ZDHHC24)
NM_024649.5:c.988A>G (BBS1) MANE Select	NP_078925.3:p.Ile330Val
NM_001348571.2:c.*22-2294T>C (ZDHHC24)	NP_001335500.1:n.*22-2294T>C