Canonical Allele Identifier: CA6123602

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 1003083
• ClinVar RCV Id: RCV001299587 ; RCV001835425 ; RCV003416168
• dbSNP Id: rs771291825
• ExAC: 11:66291310 G / A
• gnomAD v2: 11-66291310-G-A
• gnomAD v3: 11-66523839-G-A
• gnomAD v4: 11-66523839-G-A
• COSMIC: COSM6228595 ; COSM6228596
• MyVariant Identifiers: chr11:g.66291310G>A (hg19) ; chr11:g.66523839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523839G>A , CM000673.2:g.66523839G>A	GRCh38
NC_000011.9:g.66291310G>A , CM000673.1:g.66291310G>A	GRCh37
NC_000011.8:g.66047886G>A	NCBI36
NG_009093.1:g.18192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1067G>A (BBS1) MANE Select	ENSP00000317469.7:p.Arg356His
ENST00000318312.11:c.1067G>A (BBS1)	ENSP00000317469.7:p.Arg356His
ENST00000393994.4:c.724-2284G>A (BBS1)	ENSP00000377563.2:n.724-2284G>A
ENST00000419755.3:c.1178G>A	ENSP00000398526.3:p.Arg393His
ENST00000455748.6:c.776G>A (BBS1)	ENSP00000405764.2:p.Arg259His
ENST00000526760.5:c.*774G>A (BBS1)	ENSP00000432140.1:n.*774G>A
ENST00000526986.5:c.*22-2373C>T (ZDHHC24)	ENSP00000431321.1:n.*22-2373C>T
ENST00000527959.1:n.211G>A (BBS1)
ENST00000529766.5:n.1074G>A (BBS1)
ENST00000529895.1:n.516G>A (BBS1)
ENST00000529955.5:n.1038G>A (BBS1)
ENST00000532908.5:c.*727G>A (BBS1)	ENSP00000431866.1:n.*727G>A
ENST00000534073.5:c.*143+316C>T (ZDHHC24)	ENSP00000436503.1:n.*143+316C>T
ENST00000630659.2:c.*774G>A (BBS1)	ENSP00000486455.1:n.*774G>A
NM_024649.4:c.1067G>A (BBS1)	NP_078925.3:p.Arg356His
XM_005273874.3:c.*22-2373C>T (ZDHHC24)	XP_005273931.1:n.*22-2373C>T
XR_949860.1:n.808+316C>T (ZDHHC24)
NM_001348571.1:c.*22-2373C>T (ZDHHC24)	NP_001335500.1:n.*22-2373C>T
XM_005273874.4:c.*22-2373C>T (ZDHHC24)	XP_005273931.1:n.*22-2373C>T
XR_001747823.2:n.862+316C>T (ZDHHC24)
XR_949860.3:n.933+316C>T (ZDHHC24)
NM_024649.5:c.1067G>A (BBS1) MANE Select	NP_078925.3:p.Arg356His
NM_001348571.2:c.*22-2373C>T (ZDHHC24)	NP_001335500.1:n.*22-2373C>T