Canonical Allele Identifier: CA381461962

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 434481
• ClinVar RCV Id: RCV000503709
• dbSNP Id: rs1057516661
• MyVariant Identifiers: chr11:g.66291194G>C (hg19) ; chr11:g.66523723G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.952-1G>C (BBS1) MANE Select	ENSP00000317469.7:n.952-1G>C
ENST00000318312.11:c.952-1G>C (BBS1)	ENSP00000317469.7:n.952-1G>C
ENST00000393994.4:c.724-2400G>C (BBS1)	ENSP00000377563.2:n.724-2400G>C
ENST00000419755.3:c.1063-1G>C	ENSP00000398526.3:n.1063-1G>C
ENST00000455748.6:c.661-1G>C (BBS1)	ENSP00000405764.2:n.661-1G>C
ENST00000526760.5:c.*659-1G>C (BBS1)	ENSP00000432140.1:n.*659-1G>C
ENST00000526986.5:c.*22-2257C>G (ZDHHC24)	ENSP00000431321.1:n.*22-2257C>G
ENST00000527959.1:n.96-1G>C (BBS1)
ENST00000529766.5:n.959-1G>C (BBS1)
ENST00000529895.1:n.401-1G>C (BBS1)
ENST00000529955.5:n.923-1G>C (BBS1)
ENST00000532908.5:c.*612-1G>C (BBS1)	ENSP00000431866.1:n.*612-1G>C
ENST00000534073.5:c.*143+432C>G (ZDHHC24)	ENSP00000436503.1:n.*143+432C>G
ENST00000630659.2:c.*659-1G>C (BBS1)	ENSP00000486455.1:n.*659-1G>C
NM_024649.4:c.952-1G>C (BBS1)	NP_078925.3:n.952-1G>C
XM_005273874.3:c.*22-2257C>G (ZDHHC24)	XP_005273931.1:n.*22-2257C>G
XR_949860.1:n.808+432C>G (ZDHHC24)
NM_001348571.1:c.*22-2257C>G (ZDHHC24)	NP_001335500.1:n.*22-2257C>G
XM_005273874.4:c.*22-2257C>G (ZDHHC24)	XP_005273931.1:n.*22-2257C>G
XR_001747823.2:n.862+432C>G (ZDHHC24)
XR_949860.3:n.933+432C>G (ZDHHC24)
NM_024649.5:c.952-1G>C (BBS1) MANE Select	NP_078925.3:n.952-1G>C
NM_001348571.2:c.*22-2257C>G (ZDHHC24)	NP_001335500.1:n.*22-2257C>G