Canonical Allele Identifier: CA6123698

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 285380
• ClinVar RCV Id: RCV000392499 ; RCV001084455 ; RCV003947896 ; RCV001104457
• dbSNP Id: rs368302072
• ExAC: 11:66294277 C / T
• gnomAD v2: 11-66294277-C-T
• gnomAD v3: 11-66526806-C-T
• gnomAD v4: 11-66526806-C-T
• MyVariant Identifiers: chr11:g.66294277C>T (hg19) ; chr11:g.66526806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526806C>T , CM000673.2:g.66526806C>T	GRCh38
NC_000011.9:g.66294277C>T , CM000673.1:g.66294277C>T	GRCh37
NC_000011.8:g.66050853C>T	NCBI36
NG_009093.1:g.21159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1338C>T (BBS1) MANE Select	ENSP00000317469.7:p.Thr446=
ENST00000318312.11:c.1338C>T (BBS1)	ENSP00000317469.7:p.Thr446=
ENST00000393994.4:c.951C>T (BBS1)	ENSP00000377563.2:p.Thr317=
ENST00000419755.3:c.1449C>T	ENSP00000398526.3:p.Thr483=
ENST00000455748.6:c.1047C>T (BBS1)	ENSP00000405764.2:p.Thr349=
ENST00000526760.5:c.*1045C>T (BBS1)	ENSP00000432140.1:n.*1045C>T
ENST00000526986.5:c.*21+130G>A (ZDHHC24)	ENSP00000431321.1:n.*21+130G>A
ENST00000527959.1:n.482C>T (BBS1)
ENST00000529766.5:n.1345C>T (BBS1)
ENST00000529955.5:n.1309C>T (BBS1)
ENST00000534073.5:c.*21+130G>A (ZDHHC24)	ENSP00000436503.1:n.*21+130G>A
ENST00000630659.2:c.*1045C>T (BBS1)	ENSP00000486455.1:n.*1045C>T
NM_024649.4:c.1338C>T (BBS1)	NP_078925.3:p.Thr446=
XM_005273874.3:c.*21+130G>A (ZDHHC24)	XP_005273931.1:n.*21+130G>A
XM_011544894.1:c.*21+130G>A (ZDHHC24)	XP_011543196.1:n.*21+130G>A
XM_011544895.1:c.560-2530G>A (ZDHHC24)	XP_011543197.1:n.560-2530G>A
XR_949860.1:n.686+130G>A (ZDHHC24)
NM_001348571.1:c.*21+130G>A (ZDHHC24)	NP_001335500.1:n.*21+130G>A
XM_005273874.4:c.*21+130G>A (ZDHHC24)	XP_005273931.1:n.*21+130G>A
XM_011544894.2:c.*21+130G>A (ZDHHC24)	XP_011543196.1:n.*21+130G>A
XR_001747823.2:n.741-2530G>A (ZDHHC24)
XR_949860.3:n.811+130G>A (ZDHHC24)
NM_024649.5:c.1338C>T (BBS1) MANE Select	NP_078925.3:p.Thr446=
NM_001348571.2:c.*21+130G>A (ZDHHC24)	NP_001335500.1:n.*21+130G>A