Canonical Allele Identifier: CA6123580

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2191410
• ClinVar RCV Id: RCV002620588
• dbSNP Id: rs747686856
• ExAC: 11:66291214 T / C
• gnomAD v2: 11-66291214-T-C
• gnomAD v4: 11-66523743-T-C
• MyVariant Identifiers: chr11:g.66291214T>C (hg19) ; chr11:g.66523743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523743T>C , CM000673.2:g.66523743T>C	GRCh38
NC_000011.9:g.66291214T>C , CM000673.1:g.66291214T>C	GRCh37
NC_000011.8:g.66047790T>C	NCBI36
NG_009093.1:g.18096T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.971T>C (BBS1) MANE Select	ENSP00000317469.7:p.Val324Ala
ENST00000318312.11:c.971T>C (BBS1)	ENSP00000317469.7:p.Val324Ala
ENST00000393994.4:c.724-2380T>C (BBS1)	ENSP00000377563.2:n.724-2380T>C
ENST00000419755.3:c.1082T>C	ENSP00000398526.3:p.Val361Ala
ENST00000455748.6:c.680T>C (BBS1)	ENSP00000405764.2:p.Val227Ala
ENST00000526760.5:c.*678T>C (BBS1)	ENSP00000432140.1:n.*678T>C
ENST00000526986.5:c.*22-2277A>G (ZDHHC24)	ENSP00000431321.1:n.*22-2277A>G
ENST00000527959.1:n.115T>C (BBS1)
ENST00000529766.5:n.978T>C (BBS1)
ENST00000529895.1:n.420T>C (BBS1)
ENST00000529955.5:n.942T>C (BBS1)
ENST00000532908.5:c.*631T>C (BBS1)	ENSP00000431866.1:n.*631T>C
ENST00000534073.5:c.*143+412A>G (ZDHHC24)	ENSP00000436503.1:n.*143+412A>G
ENST00000630659.2:c.*678T>C (BBS1)	ENSP00000486455.1:n.*678T>C
NM_024649.4:c.971T>C (BBS1)	NP_078925.3:p.Val324Ala
XM_005273874.3:c.*22-2277A>G (ZDHHC24)	XP_005273931.1:n.*22-2277A>G
XR_949860.1:n.808+412A>G (ZDHHC24)
NM_001348571.1:c.*22-2277A>G (ZDHHC24)	NP_001335500.1:n.*22-2277A>G
XM_005273874.4:c.*22-2277A>G (ZDHHC24)	XP_005273931.1:n.*22-2277A>G
XR_001747823.2:n.862+412A>G (ZDHHC24)
XR_949860.3:n.933+412A>G (ZDHHC24)
NM_024649.5:c.971T>C (BBS1) MANE Select	NP_078925.3:p.Val324Ala
NM_001348571.2:c.*22-2277A>G (ZDHHC24)	NP_001335500.1:n.*22-2277A>G