Canonical Allele Identifier: CA6123842

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 261749
• ClinVar RCV Id: RCV000252168 ; RCV001455481
• dbSNP Id: rs780444865
• ExAC: 11:66299144 A / G
• gnomAD v2: 11-66299144-A-G
• gnomAD v3: 11-66531673-A-G
• gnomAD v4: 11-66531673-A-G
• MyVariant Identifiers: chr11:g.66299144A>G (hg19) ; chr11:g.66531673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531673A>G , CM000673.2:g.66531673A>G	GRCh38
NC_000011.9:g.66299144A>G , CM000673.1:g.66299144A>G	GRCh37
NC_000011.8:g.66055720A>G	NCBI36
NG_009093.1:g.26026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1626A>G (BBS1) MANE Select	ENSP00000317469.7:p.Pro542=
ENST00000318312.11:c.1626A>G (BBS1)	ENSP00000317469.7:p.Pro542=
ENST00000393994.4:c.1239A>G (BBS1)	ENSP00000377563.2:p.Pro413=
ENST00000419755.3:c.1737A>G	ENSP00000398526.3:p.Pro579=
ENST00000455748.6:c.1335A>G (BBS1)	ENSP00000405764.2:p.Pro445=
ENST00000526760.5:c.*1333A>G (BBS1)	ENSP00000432140.1:n.*1333A>G
ENST00000526986.5:c.560-2185T>C (ZDHHC24)	ENSP00000431321.1:n.560-2185T>C
ENST00000529955.5:n.1597A>G (BBS1)
ENST00000534073.5:c.560-4667T>C (ZDHHC24)	ENSP00000436503.1:n.560-4667T>C
ENST00000630659.2:c.*1333A>G (BBS1)	ENSP00000486455.1:n.*1333A>G
NM_024649.4:c.1626A>G (BBS1)	NP_078925.3:p.Pro542=
XM_005273874.3:c.560-4667T>C (ZDHHC24)	XP_005273931.1:n.560-4667T>C
XM_011544891.1:c.560-2185T>C (ZDHHC24)	XP_011543193.1:n.560-2185T>C
XM_011544894.1:c.560-4667T>C (ZDHHC24)	XP_011543196.1:n.560-4667T>C
XM_011544895.1:c.560-7397T>C (ZDHHC24)	XP_011543197.1:n.560-7397T>C
XR_949860.1:n.616-4667T>C (ZDHHC24)
NM_001348571.1:c.560-2185T>C (ZDHHC24)	NP_001335500.1:n.560-2185T>C
XM_005273874.4:c.560-4667T>C (ZDHHC24)	XP_005273931.1:n.560-4667T>C
XM_011544894.2:c.560-4667T>C (ZDHHC24)	XP_011543196.1:n.560-4667T>C
XR_001747823.2:n.741-7397T>C (ZDHHC24)
XR_949860.3:n.741-4667T>C (ZDHHC24)
NM_024649.5:c.1626A>G (BBS1) MANE Select	NP_078925.3:p.Pro542=
NM_001348571.2:c.560-2185T>C (ZDHHC24)	NP_001335500.1:n.560-2185T>C