Canonical Allele Identifier: CA6123881

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 501106
• ClinVar RCV Id: RCV000598276 ; RCV001479055 ; RCV003900344
• dbSNP Id: rs61890368
• ExAC: 11:66299469 C / T
• gnomAD v2: 11-66299469-C-T
• gnomAD v3: 11-66531998-C-T
• gnomAD v4: 11-66531998-C-T
• MyVariant Identifiers: chr11:g.66299469C>T (hg19) ; chr11:g.66531998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531998C>T , CM000673.2:g.66531998C>T	GRCh38
NC_000011.9:g.66299469C>T , CM000673.1:g.66299469C>T	GRCh37
NC_000011.8:g.66056045C>T	NCBI36
NG_009093.1:g.26351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1743C>T (BBS1) MANE Select	ENSP00000317469.7:p.His581=
ENST00000318312.11:c.1743C>T (BBS1)	ENSP00000317469.7:p.His581=
ENST00000393994.4:c.*223C>T (BBS1)	ENSP00000377563.2:n.*223C>T
ENST00000419755.3:c.1854C>T	ENSP00000398526.3:p.His618=
ENST00000455748.6:c.1452C>T (BBS1)	ENSP00000405764.2:p.His484=
ENST00000526760.5:c.*1658C>T (BBS1)	ENSP00000432140.1:n.*1658C>T
ENST00000526986.5:c.560-2510G>A (ZDHHC24)	ENSP00000431321.1:n.560-2510G>A
ENST00000529955.5:n.1922C>T (BBS1)
ENST00000534073.5:c.560-4992G>A (ZDHHC24)	ENSP00000436503.1:n.560-4992G>A
ENST00000630659.2:c.*1450C>T (BBS1)	ENSP00000486455.1:n.*1450C>T
NM_024649.4:c.1743C>T (BBS1)	NP_078925.3:p.His581=
XM_005273874.3:c.560-4992G>A (ZDHHC24)	XP_005273931.1:n.560-4992G>A
XM_011544891.1:c.560-2510G>A (ZDHHC24)	XP_011543193.1:n.560-2510G>A
XM_011544894.1:c.560-4992G>A (ZDHHC24)	XP_011543196.1:n.560-4992G>A
XM_011544895.1:c.560-7722G>A (ZDHHC24)	XP_011543197.1:n.560-7722G>A
XR_949860.1:n.616-4992G>A (ZDHHC24)
NM_001348571.1:c.560-2510G>A (ZDHHC24)	NP_001335500.1:n.560-2510G>A
XM_005273874.4:c.560-4992G>A (ZDHHC24)	XP_005273931.1:n.560-4992G>A
XM_011544894.2:c.560-4992G>A (ZDHHC24)	XP_011543196.1:n.560-4992G>A
XR_001747823.2:n.741-7722G>A (ZDHHC24)
XR_949860.3:n.741-4992G>A (ZDHHC24)
NM_024649.5:c.1743C>T (BBS1) MANE Select	NP_078925.3:p.His581=
NM_001348571.2:c.560-2510G>A (ZDHHC24)	NP_001335500.1:n.560-2510G>A