Canonical Allele Identifier: CA6123565

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs553625102
• ExAC: 11:66291150 C / G
• gnomAD v2: 11-66291150-C-G
• gnomAD v3: 11-66523679-C-G
• gnomAD v4: 11-66523679-C-G
• MyVariant Identifiers: chr11:g.66291150C>G (hg19) ; chr11:g.66523679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523679C>G , CM000673.2:g.66523679C>G	GRCh38
NC_000011.9:g.66291150C>G , CM000673.1:g.66291150C>G	GRCh37
NC_000011.8:g.66047726C>G	NCBI36
NG_009093.1:g.18032C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.952-45C>G (BBS1) MANE Select	ENSP00000317469.7:n.952-45C>G
ENST00000318312.11:c.952-45C>G (BBS1)	ENSP00000317469.7:n.952-45C>G
ENST00000393994.4:c.724-2444C>G (BBS1)	ENSP00000377563.2:n.724-2444C>G
ENST00000419755.3:c.1063-45C>G	ENSP00000398526.3:n.1063-45C>G
ENST00000455748.6:c.661-45C>G (BBS1)	ENSP00000405764.2:n.661-45C>G
ENST00000526760.5:c.*659-45C>G (BBS1)	ENSP00000432140.1:n.*659-45C>G
ENST00000526986.5:c.*22-2213G>C (ZDHHC24)	ENSP00000431321.1:n.*22-2213G>C
ENST00000527959.1:n.96-45C>G (BBS1)
ENST00000529766.5:n.959-45C>G (BBS1)
ENST00000529895.1:n.401-45C>G (BBS1)
ENST00000529955.5:n.923-45C>G (BBS1)
ENST00000532908.5:c.*612-45C>G (BBS1)	ENSP00000431866.1:n.*612-45C>G
ENST00000534073.5:c.*143+476G>C (ZDHHC24)	ENSP00000436503.1:n.*143+476G>C
ENST00000630659.2:c.*659-45C>G (BBS1)	ENSP00000486455.1:n.*659-45C>G
NM_024649.4:c.952-45C>G (BBS1)	NP_078925.3:n.952-45C>G
XM_005273874.3:c.*22-2213G>C (ZDHHC24)	XP_005273931.1:n.*22-2213G>C
XR_949860.1:n.808+476G>C (ZDHHC24)
NM_001348571.1:c.*22-2213G>C (ZDHHC24)	NP_001335500.1:n.*22-2213G>C
XM_005273874.4:c.*22-2213G>C (ZDHHC24)	XP_005273931.1:n.*22-2213G>C
XR_001747823.2:n.862+476G>C (ZDHHC24)
XR_949860.3:n.933+476G>C (ZDHHC24)
NM_024649.5:c.952-45C>G (BBS1) MANE Select	NP_078925.3:n.952-45C>G
NM_001348571.2:c.*22-2213G>C (ZDHHC24)	NP_001335500.1:n.*22-2213G>C