Canonical Allele Identifier: CA381462333

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs544274797
• gnomAD v2: 11-66291265-G-C
• gnomAD v4: 11-66523794-G-C
• MyVariant Identifiers: chr11:g.66291265G>C (hg19) ; chr11:g.66523794G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523794G>C , CM000673.2:g.66523794G>C	GRCh38
NC_000011.9:g.66291265G>C , CM000673.1:g.66291265G>C	GRCh37
NC_000011.8:g.66047841G>C	NCBI36
NG_009093.1:g.18147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1022G>C (BBS1) MANE Select	ENSP00000317469.7:p.Arg341Pro
ENST00000318312.11:c.1022G>C (BBS1)	ENSP00000317469.7:p.Arg341Pro
ENST00000393994.4:c.724-2329G>C (BBS1)	ENSP00000377563.2:n.724-2329G>C
ENST00000419755.3:c.1133G>C	ENSP00000398526.3:p.Arg378Pro
ENST00000455748.6:c.731G>C (BBS1)	ENSP00000405764.2:p.Arg244Pro
ENST00000526760.5:c.*729G>C (BBS1)	ENSP00000432140.1:n.*729G>C
ENST00000526986.5:c.*22-2328C>G (ZDHHC24)	ENSP00000431321.1:n.*22-2328C>G
ENST00000527959.1:n.166G>C (BBS1)
ENST00000529766.5:n.1029G>C (BBS1)
ENST00000529895.1:n.471G>C (BBS1)
ENST00000529955.5:n.993G>C (BBS1)
ENST00000532908.5:c.*682G>C (BBS1)	ENSP00000431866.1:n.*682G>C
ENST00000534073.5:c.*143+361C>G (ZDHHC24)	ENSP00000436503.1:n.*143+361C>G
ENST00000630659.2:c.*729G>C (BBS1)	ENSP00000486455.1:n.*729G>C
NM_024649.4:c.1022G>C (BBS1)	NP_078925.3:p.Arg341Pro
XM_005273874.3:c.*22-2328C>G (ZDHHC24)	XP_005273931.1:n.*22-2328C>G
XR_949860.1:n.808+361C>G (ZDHHC24)
NM_001348571.1:c.*22-2328C>G (ZDHHC24)	NP_001335500.1:n.*22-2328C>G
XM_005273874.4:c.*22-2328C>G (ZDHHC24)	XP_005273931.1:n.*22-2328C>G
XR_001747823.2:n.862+361C>G (ZDHHC24)
XR_949860.3:n.933+361C>G (ZDHHC24)
NM_024649.5:c.1022G>C (BBS1) MANE Select	NP_078925.3:p.Arg341Pro
NM_001348571.2:c.*22-2328C>G (ZDHHC24)	NP_001335500.1:n.*22-2328C>G