Canonical Allele Identifier: CA6123584

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2192817
• ClinVar RCV Id: RCV002643834
• dbSNP Id: rs766684863
• ExAC: 11:66291225 G / A
• gnomAD v2: 11-66291225-G-A
• gnomAD v3: 11-66523754-G-A
• gnomAD v4: 11-66523754-G-A
• MyVariant Identifiers: chr11:g.66291225G>A (hg19) ; chr11:g.66523754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523754G>A , CM000673.2:g.66523754G>A	GRCh38
NC_000011.9:g.66291225G>A , CM000673.1:g.66291225G>A	GRCh37
NC_000011.8:g.66047801G>A	NCBI36
NG_009093.1:g.18107G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.982G>A (BBS1) MANE Select	ENSP00000317469.7:p.Ala328Thr
ENST00000318312.11:c.982G>A (BBS1)	ENSP00000317469.7:p.Ala328Thr
ENST00000393994.4:c.724-2369G>A (BBS1)	ENSP00000377563.2:n.724-2369G>A
ENST00000419755.3:c.1093G>A	ENSP00000398526.3:p.Ala365Thr
ENST00000455748.6:c.691G>A (BBS1)	ENSP00000405764.2:p.Ala231Thr
ENST00000526760.5:c.*689G>A (BBS1)	ENSP00000432140.1:n.*689G>A
ENST00000526986.5:c.*22-2288C>T (ZDHHC24)	ENSP00000431321.1:n.*22-2288C>T
ENST00000527959.1:n.126G>A (BBS1)
ENST00000529766.5:n.989G>A (BBS1)
ENST00000529895.1:n.431G>A (BBS1)
ENST00000529955.5:n.953G>A (BBS1)
ENST00000532908.5:c.*642G>A (BBS1)	ENSP00000431866.1:n.*642G>A
ENST00000534073.5:c.*143+401C>T (ZDHHC24)	ENSP00000436503.1:n.*143+401C>T
ENST00000630659.2:c.*689G>A (BBS1)	ENSP00000486455.1:n.*689G>A
NM_024649.4:c.982G>A (BBS1)	NP_078925.3:p.Ala328Thr
XM_005273874.3:c.*22-2288C>T (ZDHHC24)	XP_005273931.1:n.*22-2288C>T
XR_949860.1:n.808+401C>T (ZDHHC24)
NM_001348571.1:c.*22-2288C>T (ZDHHC24)	NP_001335500.1:n.*22-2288C>T
XM_005273874.4:c.*22-2288C>T (ZDHHC24)	XP_005273931.1:n.*22-2288C>T
XR_001747823.2:n.862+401C>T (ZDHHC24)
XR_949860.3:n.933+401C>T (ZDHHC24)
NM_024649.5:c.982G>A (BBS1) MANE Select	NP_078925.3:p.Ala328Thr
NM_001348571.2:c.*22-2288C>T (ZDHHC24)	NP_001335500.1:n.*22-2288C>T