Canonical Allele Identifier: CA256226

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 12144
• ClinVar RCV Id: RCV000012927 ; RCV000169202 ; RCV001008645 ; RCV001723562 ; RCV003934827 ; RCV002513001
• dbSNP Id: rs121917777
• ExAC: 11:66299163 G / T
• gnomAD v2: 11-66299163-G-T
• gnomAD v3: 11-66531692-G-T
• gnomAD v4: 11-66531692-G-T
• MyVariant Identifiers: chr11:g.66299163G>T (hg19) ; chr11:g.66531692G>T (hg38)
• PubMed: PMID:12118255 ; PMID:12677556 ; PMID:15770229 ; PMID:16327777 ; PMID:21517826 ; PMID:21642631 ; PMID:22410627

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531692G>T , CM000673.2:g.66531692G>T	GRCh38
NC_000011.9:g.66299163G>T , CM000673.1:g.66299163G>T	GRCh37
NC_000011.8:g.66055739G>T	NCBI36
NG_009093.1:g.26045G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1645G>T (BBS1) MANE Select	ENSP00000317469.7:p.Glu549Ter
ENST00000318312.11:c.1645G>T (BBS1)	ENSP00000317469.7:p.Glu549Ter
ENST00000393994.4:c.1258G>T (BBS1)	ENSP00000377563.2:p.Glu420Ter
ENST00000419755.3:c.1756G>T	ENSP00000398526.3:p.Glu586Ter
ENST00000455748.6:c.1354G>T (BBS1)	ENSP00000405764.2:p.Glu452Ter
ENST00000526760.5:c.*1352G>T (BBS1)	ENSP00000432140.1:n.*1352G>T
ENST00000526986.5:c.560-2204C>A (ZDHHC24)	ENSP00000431321.1:n.560-2204C>A
ENST00000529955.5:n.1616G>T (BBS1)
ENST00000534073.5:c.560-4686C>A (ZDHHC24)	ENSP00000436503.1:n.560-4686C>A
ENST00000630659.2:c.*1352G>T (BBS1)	ENSP00000486455.1:n.*1352G>T
NM_024649.4:c.1645G>T (BBS1)	NP_078925.3:p.Glu549Ter
XM_005273874.3:c.560-4686C>A (ZDHHC24)	XP_005273931.1:n.560-4686C>A
XM_011544891.1:c.560-2204C>A (ZDHHC24)	XP_011543193.1:n.560-2204C>A
XM_011544894.1:c.560-4686C>A (ZDHHC24)	XP_011543196.1:n.560-4686C>A
XM_011544895.1:c.560-7416C>A (ZDHHC24)	XP_011543197.1:n.560-7416C>A
XR_949860.1:n.616-4686C>A (ZDHHC24)
NM_001348571.1:c.560-2204C>A (ZDHHC24)	NP_001335500.1:n.560-2204C>A
XM_005273874.4:c.560-4686C>A (ZDHHC24)	XP_005273931.1:n.560-4686C>A
XM_011544894.2:c.560-4686C>A (ZDHHC24)	XP_011543196.1:n.560-4686C>A
XR_001747823.2:n.741-7416C>A (ZDHHC24)
XR_949860.3:n.741-4686C>A (ZDHHC24)
NM_024649.5:c.1645G>T (BBS1) MANE Select	NP_078925.3:p.Glu549Ter
NM_001348571.2:c.560-2204C>A (ZDHHC24)	NP_001335500.1:n.560-2204C>A