Canonical Allele Identifier: CA381462208

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 1356088
• ClinVar RCV Id: RCV001880346
• dbSNP Id: rs1856357942
• gnomAD v4: 11-66523771-G-A
• MyVariant Identifiers: chr11:g.66291242G>A (hg19) ; chr11:g.66523771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523771G>A , CM000673.2:g.66523771G>A	GRCh38
NC_000011.9:g.66291242G>A , CM000673.1:g.66291242G>A	GRCh37
NC_000011.8:g.66047818G>A	NCBI36
NG_009093.1:g.18124G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.999G>A (BBS1) MANE Select	ENSP00000317469.7:p.Met333Ile
ENST00000318312.11:c.999G>A (BBS1)	ENSP00000317469.7:p.Met333Ile
ENST00000393994.4:c.724-2352G>A (BBS1)	ENSP00000377563.2:n.724-2352G>A
ENST00000419755.3:c.1110G>A	ENSP00000398526.3:p.Met370Ile
ENST00000455748.6:c.708G>A (BBS1)	ENSP00000405764.2:p.Met236Ile
ENST00000526760.5:c.*706G>A (BBS1)	ENSP00000432140.1:n.*706G>A
ENST00000526986.5:c.*22-2305C>T (ZDHHC24)	ENSP00000431321.1:n.*22-2305C>T
ENST00000527959.1:n.143G>A (BBS1)
ENST00000529766.5:n.1006G>A (BBS1)
ENST00000529895.1:n.448G>A (BBS1)
ENST00000529955.5:n.970G>A (BBS1)
ENST00000532908.5:c.*659G>A (BBS1)	ENSP00000431866.1:n.*659G>A
ENST00000534073.5:c.*143+384C>T (ZDHHC24)	ENSP00000436503.1:n.*143+384C>T
ENST00000630659.2:c.*706G>A (BBS1)	ENSP00000486455.1:n.*706G>A
NM_024649.4:c.999G>A (BBS1)	NP_078925.3:p.Met333Ile
XM_005273874.3:c.*22-2305C>T (ZDHHC24)	XP_005273931.1:n.*22-2305C>T
XR_949860.1:n.808+384C>T (ZDHHC24)
NM_001348571.1:c.*22-2305C>T (ZDHHC24)	NP_001335500.1:n.*22-2305C>T
XM_005273874.4:c.*22-2305C>T (ZDHHC24)	XP_005273931.1:n.*22-2305C>T
XR_001747823.2:n.862+384C>T (ZDHHC24)
XR_949860.3:n.933+384C>T (ZDHHC24)
NM_024649.5:c.999G>A (BBS1) MANE Select	NP_078925.3:p.Met333Ile
NM_001348571.2:c.*22-2305C>T (ZDHHC24)	NP_001335500.1:n.*22-2305C>T