Canonical Allele Identifier: CA6123587

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 1037324
• ClinVar RCV Id: RCV001340458 ; RCV001830425 ; RCV003953676
• dbSNP Id: rs765494351
• ExAC: 11:66291249 C / G
• gnomAD v2: 11-66291249-C-G
• gnomAD v4: 11-66523778-C-G
• MyVariant Identifiers: chr11:g.66291249C>G (hg19) ; chr11:g.66523778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523778C>G , CM000673.2:g.66523778C>G	GRCh38
NC_000011.9:g.66291249C>G , CM000673.1:g.66291249C>G	GRCh37
NC_000011.8:g.66047825C>G	NCBI36
NG_009093.1:g.18131C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1006C>G (BBS1) MANE Select	ENSP00000317469.7:p.Leu336Val
ENST00000318312.11:c.1006C>G (BBS1)	ENSP00000317469.7:p.Leu336Val
ENST00000393994.4:c.724-2345C>G (BBS1)	ENSP00000377563.2:n.724-2345C>G
ENST00000419755.3:c.1117C>G	ENSP00000398526.3:p.Leu373Val
ENST00000455748.6:c.715C>G (BBS1)	ENSP00000405764.2:p.Leu239Val
ENST00000526760.5:c.*713C>G (BBS1)	ENSP00000432140.1:n.*713C>G
ENST00000526986.5:c.*22-2312G>C (ZDHHC24)	ENSP00000431321.1:n.*22-2312G>C
ENST00000527959.1:n.150C>G (BBS1)
ENST00000529766.5:n.1013C>G (BBS1)
ENST00000529895.1:n.455C>G (BBS1)
ENST00000529955.5:n.977C>G (BBS1)
ENST00000532908.5:c.*666C>G (BBS1)	ENSP00000431866.1:n.*666C>G
ENST00000534073.5:c.*143+377G>C (ZDHHC24)	ENSP00000436503.1:n.*143+377G>C
ENST00000630659.2:c.*713C>G (BBS1)	ENSP00000486455.1:n.*713C>G
NM_024649.4:c.1006C>G (BBS1)	NP_078925.3:p.Leu336Val
XM_005273874.3:c.*22-2312G>C (ZDHHC24)	XP_005273931.1:n.*22-2312G>C
XR_949860.1:n.808+377G>C (ZDHHC24)
NM_001348571.1:c.*22-2312G>C (ZDHHC24)	NP_001335500.1:n.*22-2312G>C
XM_005273874.4:c.*22-2312G>C (ZDHHC24)	XP_005273931.1:n.*22-2312G>C
XR_001747823.2:n.862+377G>C (ZDHHC24)
XR_949860.3:n.933+377G>C (ZDHHC24)
NM_024649.5:c.1006C>G (BBS1) MANE Select	NP_078925.3:p.Leu336Val
NM_001348571.2:c.*22-2312G>C (ZDHHC24)	NP_001335500.1:n.*22-2312G>C