Canonical Allele Identifier: CA381460984

Gene: BBS1 ZDHHC24

Linked Data

• gnomAD v4: 11-66523455-G-A
• MyVariant Identifiers: chr11:g.66290926G>A (hg19) ; chr11:g.66523455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523455G>A , CM000673.2:g.66523455G>A	GRCh38
NC_000011.9:g.66290926G>A , CM000673.1:g.66290926G>A	GRCh37
NC_000011.8:g.66047502G>A	NCBI36
NG_009093.1:g.17808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.831-1G>A (BBS1) MANE Select	ENSP00000317469.7:n.831-1G>A
ENST00000318312.11:c.831-1G>A (BBS1)	ENSP00000317469.7:n.831-1G>A
ENST00000393994.4:c.724-2668G>A (BBS1)	ENSP00000377563.2:n.724-2668G>A
ENST00000419755.3:c.942-1G>A	ENSP00000398526.3:n.942-1G>A
ENST00000455748.6:c.540-1G>A (BBS1)	ENSP00000405764.2:n.540-1G>A
ENST00000524458.5:c.*620-1G>A (BBS1)	ENSP00000436195.1:n.*620-1G>A
ENST00000524884.1:n.516-1G>A (BBS1)
ENST00000525809.5:c.558-1G>A (BBS1)	ENSP00000431187.1:n.558-1G>A
ENST00000526035.5:c.*534-1G>A (BBS1)	ENSP00000434197.1:n.*534-1G>A
ENST00000526760.5:c.*538-1G>A (BBS1)	ENSP00000432140.1:n.*538-1G>A
ENST00000526986.5:c.*22-1989C>T (ZDHHC24)	ENSP00000431321.1:n.*22-1989C>T
ENST00000529766.5:n.838-1G>A (BBS1)
ENST00000529895.1:n.279G>A (BBS1)
ENST00000529955.5:n.802-1G>A (BBS1)
ENST00000532908.5:c.*491-1G>A (BBS1)	ENSP00000431866.1:n.*491-1G>A
ENST00000533557.5:c.*685-1G>A (BBS1)	ENSP00000434619.1:n.*685-1G>A
ENST00000533644.5:c.*289-1G>A (BBS1)	ENSP00000436073.1:n.*289-1G>A
ENST00000534073.5:c.*143+700C>T (ZDHHC24)	ENSP00000436503.1:n.*143+700C>T
ENST00000630659.2:c.*538-1G>A (BBS1)	ENSP00000486455.1:n.*538-1G>A
NM_024649.4:c.831-1G>A (BBS1)	NP_078925.3:n.831-1G>A
XM_005273874.3:c.*22-1989C>T (ZDHHC24)	XP_005273931.1:n.*22-1989C>T
XR_949860.1:n.808+700C>T (ZDHHC24)
NM_001348571.1:c.*22-1989C>T (ZDHHC24)	NP_001335500.1:n.*22-1989C>T
XM_005273874.4:c.*22-1989C>T (ZDHHC24)	XP_005273931.1:n.*22-1989C>T
XR_001747823.2:n.862+700C>T (ZDHHC24)
XR_949860.3:n.933+700C>T (ZDHHC24)
NM_024649.5:c.831-1G>A (BBS1) MANE Select	NP_078925.3:n.831-1G>A
NM_001348571.2:c.*22-1989C>T (ZDHHC24)	NP_001335500.1:n.*22-1989C>T