Canonical Allele Identifier: CA6123683

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2140380
• ClinVar RCV Id: RCV003066832 ; RCV003171000
• dbSNP Id: rs777838678
• ExAC: 11:66294183 T / G
• gnomAD v2: 11-66294183-T-G
• gnomAD v3: 11-66526712-T-G
• gnomAD v4: 11-66526712-T-G
• MyVariant Identifiers: chr11:g.66294183T>G (hg19) ; chr11:g.66526712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526712T>G , CM000673.2:g.66526712T>G	GRCh38
NC_000011.9:g.66294183T>G , CM000673.1:g.66294183T>G	GRCh37
NC_000011.8:g.66050759T>G	NCBI36
NG_009093.1:g.21065T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1244T>G (BBS1) MANE Select	ENSP00000317469.7:p.Val415Gly
ENST00000318312.11:c.1244T>G (BBS1)	ENSP00000317469.7:p.Val415Gly
ENST00000393994.4:c.857T>G (BBS1)	ENSP00000377563.2:p.Val286Gly
ENST00000419755.3:c.1355T>G	ENSP00000398526.3:p.Val452Gly
ENST00000455748.6:c.953T>G (BBS1)	ENSP00000405764.2:p.Val318Gly
ENST00000526760.5:c.*951T>G (BBS1)	ENSP00000432140.1:n.*951T>G
ENST00000526986.5:c.*21+224A>C (ZDHHC24)	ENSP00000431321.1:n.*21+224A>C
ENST00000527959.1:n.388T>G (BBS1)
ENST00000529766.5:n.1251T>G (BBS1)
ENST00000529955.5:n.1215T>G (BBS1)
ENST00000534073.5:c.*21+224A>C (ZDHHC24)	ENSP00000436503.1:n.*21+224A>C
ENST00000630659.2:c.*951T>G (BBS1)	ENSP00000486455.1:n.*951T>G
NM_024649.4:c.1244T>G (BBS1)	NP_078925.3:p.Val415Gly
XM_005273874.3:c.*21+224A>C (ZDHHC24)	XP_005273931.1:n.*21+224A>C
XM_011544894.1:c.*21+224A>C (ZDHHC24)	XP_011543196.1:n.*21+224A>C
XM_011544895.1:c.560-2436A>C (ZDHHC24)	XP_011543197.1:n.560-2436A>C
XR_949860.1:n.686+224A>C (ZDHHC24)
NM_001348571.1:c.*21+224A>C (ZDHHC24)	NP_001335500.1:n.*21+224A>C
XM_005273874.4:c.*21+224A>C (ZDHHC24)	XP_005273931.1:n.*21+224A>C
XM_011544894.2:c.*21+224A>C (ZDHHC24)	XP_011543196.1:n.*21+224A>C
XR_001747823.2:n.741-2436A>C (ZDHHC24)
XR_949860.3:n.811+224A>C (ZDHHC24)
NM_024649.5:c.1244T>G (BBS1) MANE Select	NP_078925.3:p.Val415Gly
NM_001348571.2:c.*21+224A>C (ZDHHC24)	NP_001335500.1:n.*21+224A>C