Canonical Allele Identifier: CA16041526

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 370358
• ClinVar RCV Id: RCV000411176 ; RCV002523851
• dbSNP Id: rs1057516427
• gnomAD v4: 11-66523480-C-A
• MyVariant Identifiers: chr11:g.66290951C>A (hg19) ; chr11:g.66523480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523480C>A , CM000673.2:g.66523480C>A	GRCh38
NC_000011.9:g.66290951C>A , CM000673.1:g.66290951C>A	GRCh37
NC_000011.8:g.66047527C>A	NCBI36
NG_009093.1:g.17833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.855C>A (BBS1) MANE Select	ENSP00000317469.7:p.Cys285Ter
ENST00000318312.11:c.855C>A (BBS1)	ENSP00000317469.7:p.Cys285Ter
ENST00000393994.4:c.724-2643C>A (BBS1)	ENSP00000377563.2:n.724-2643C>A
ENST00000419755.3:c.966C>A	ENSP00000398526.3:p.Cys322Ter
ENST00000455748.6:c.564C>A (BBS1)	ENSP00000405764.2:p.Cys188Ter
ENST00000524458.5:c.*644C>A (BBS1)	ENSP00000436195.1:n.*644C>A
ENST00000524884.1:n.540C>A (BBS1)
ENST00000526760.5:c.*562C>A (BBS1)	ENSP00000432140.1:n.*562C>A
ENST00000526986.5:c.*22-2014G>T (ZDHHC24)	ENSP00000431321.1:n.*22-2014G>T
ENST00000529766.5:n.862C>A (BBS1)
ENST00000529895.1:n.304C>A (BBS1)
ENST00000529955.5:n.826C>A (BBS1)
ENST00000532908.5:c.*515C>A (BBS1)	ENSP00000431866.1:n.*515C>A
ENST00000533557.5:c.*709C>A (BBS1)	ENSP00000434619.1:n.*709C>A
ENST00000533644.5:c.*313C>A (BBS1)	ENSP00000436073.1:n.*313C>A
ENST00000534073.5:c.*143+675G>T (ZDHHC24)	ENSP00000436503.1:n.*143+675G>T
ENST00000630659.2:c.*562C>A (BBS1)	ENSP00000486455.1:n.*562C>A
NM_024649.4:c.855C>A (BBS1)	NP_078925.3:p.Cys285Ter
XM_005273874.3:c.*22-2014G>T (ZDHHC24)	XP_005273931.1:n.*22-2014G>T
XR_949860.1:n.808+675G>T (ZDHHC24)
NM_001348571.1:c.*22-2014G>T (ZDHHC24)	NP_001335500.1:n.*22-2014G>T
XM_005273874.4:c.*22-2014G>T (ZDHHC24)	XP_005273931.1:n.*22-2014G>T
XR_001747823.2:n.862+675G>T (ZDHHC24)
XR_949860.3:n.933+675G>T (ZDHHC24)
NM_024649.5:c.855C>A (BBS1) MANE Select	NP_078925.3:p.Cys285Ter
NM_001348571.2:c.*22-2014G>T (ZDHHC24)	NP_001335500.1:n.*22-2014G>T