Canonical Allele Identifier: CA16041528
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370653
ClinVar RCV Id: RCV000410767
dbSNP Id: rs1057516661

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66523723G>A , CM000673.2:g.66523723G>A GRCh38
NC_000011.9:g.66291194G>A , CM000673.1:g.66291194G>A GRCh37
NC_000011.8:g.66047770G>A NCBI36
NG_009093.1:g.18076G>A

Transcript Alleles

HGVS Amino-acid change
NM_024649.4:c.952-1G>A (BBS1) VV NP_078925.3:p.=
XM_005273874.3:c.*22-2257C>T (ZDHHC24) XP_005273931.1:p.=
XR_949860.1:n.808+432C>T (ZDHHC24)
NM_001348571.1:c.*22-2257C>T (ZDHHC24) VV NP_001335500.1:p.=
XM_005273874.4:c.*22-2257C>T (ZDHHC24)
XR_001747823.2:n.862+432C>T (ZDHHC24)
XR_949860.3:n.933+432C>T (ZDHHC24)
NM_024649.5:c.952-1G>A (BBS1) VV
ENST00000318312.11:c.952-1G>A ENSP00000317469.7:p.=
ENST00000393994.4:c.724-2400G>A ENSP00000377563.2:p.=
ENST00000419755.3:c.1063-1G>A ENSP00000398526.3:p.=
ENST00000455748.6:c.661-1G>A ENSP00000405764.2:p.=
ENST00000526760.5:c.*659-1G>A ENSP00000432140.1:p.=
ENST00000526986.5:c.*22-2257C>T ENSP00000431321.1:p.=
ENST00000527959.1:n.96-1G>A
ENST00000529766.5:n.959-1G>A
ENST00000529895.1:n.401-1G>A
ENST00000529955.5:n.923-1G>A
ENST00000532908.5:c.*612-1G>A ENSP00000431866.1:p.=
ENST00000534073.5:c.*143+432C>T ENSP00000436503.1:p.=
ENST00000630659.2:c.*659-1G>A ENSP00000486455.1:p.=