Canonical Allele Identifier: CA6123687

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 462952
• ClinVar RCV Id: RCV000551663 ; RCV001834775 ; RCV002528349 ; RCV003889922
• dbSNP Id: rs755782127
• ExAC: 11:66294216 A / G
• gnomAD v2: 11-66294216-A-G
• gnomAD v3: 11-66526745-A-G
• gnomAD v4: 11-66526745-A-G
• COSMIC: COSM3376017 ; COSM3376018
• MyVariant Identifiers: chr11:g.66294216A>G (hg19) ; chr11:g.66526745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526745A>G , CM000673.2:g.66526745A>G	GRCh38
NC_000011.9:g.66294216A>G , CM000673.1:g.66294216A>G	GRCh37
NC_000011.8:g.66050792A>G	NCBI36
NG_009093.1:g.21098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1277A>G (BBS1) MANE Select	ENSP00000317469.7:p.Asn426Ser
ENST00000318312.11:c.1277A>G (BBS1)	ENSP00000317469.7:p.Asn426Ser
ENST00000393994.4:c.890A>G (BBS1)	ENSP00000377563.2:p.Asn297Ser
ENST00000419755.3:c.1388A>G	ENSP00000398526.3:p.Asn463Ser
ENST00000455748.6:c.986A>G (BBS1)	ENSP00000405764.2:p.Asn329Ser
ENST00000526760.5:c.*984A>G (BBS1)	ENSP00000432140.1:n.*984A>G
ENST00000526986.5:c.*21+191T>C (ZDHHC24)	ENSP00000431321.1:n.*21+191T>C
ENST00000527959.1:n.421A>G (BBS1)
ENST00000529766.5:n.1284A>G (BBS1)
ENST00000529955.5:n.1248A>G (BBS1)
ENST00000534073.5:c.*21+191T>C (ZDHHC24)	ENSP00000436503.1:n.*21+191T>C
ENST00000630659.2:c.*984A>G (BBS1)	ENSP00000486455.1:n.*984A>G
NM_024649.4:c.1277A>G (BBS1)	NP_078925.3:p.Asn426Ser
XM_005273874.3:c.*21+191T>C (ZDHHC24)	XP_005273931.1:n.*21+191T>C
XM_011544894.1:c.*21+191T>C (ZDHHC24)	XP_011543196.1:n.*21+191T>C
XM_011544895.1:c.560-2469T>C (ZDHHC24)	XP_011543197.1:n.560-2469T>C
XR_949860.1:n.686+191T>C (ZDHHC24)
NM_001348571.1:c.*21+191T>C (ZDHHC24)	NP_001335500.1:n.*21+191T>C
XM_005273874.4:c.*21+191T>C (ZDHHC24)	XP_005273931.1:n.*21+191T>C
XM_011544894.2:c.*21+191T>C (ZDHHC24)	XP_011543196.1:n.*21+191T>C
XR_001747823.2:n.741-2469T>C (ZDHHC24)
XR_949860.3:n.811+191T>C (ZDHHC24)
NM_024649.5:c.1277A>G (BBS1) MANE Select	NP_078925.3:p.Asn426Ser
NM_001348571.2:c.*21+191T>C (ZDHHC24)	NP_001335500.1:n.*21+191T>C