Canonical Allele Identifier: CA16613498

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 412285
• ClinVar RCV Id: RCV000464697 ; RCV001809414
• dbSNP Id: rs372939761
• MyVariant Identifiers: chr11:g.66288811C>A (hg19) ; chr11:g.66521340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66521340C>A , CM000673.2:g.66521340C>A	GRCh38
NC_000011.9:g.66288811C>A , CM000673.1:g.66288811C>A	GRCh37
NC_000011.8:g.66045387C>A	NCBI36
NG_009093.1:g.15693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.794C>A (BBS1) MANE Select	ENSP00000317469.7:p.Ala265Glu
ENST00000318312.11:c.794C>A (BBS1)	ENSP00000317469.7:p.Ala265Glu
ENST00000393994.4:c.723+1592C>A (BBS1)	ENSP00000377563.2:n.723+1592C>A
ENST00000419755.3:c.905C>A	ENSP00000398526.3:p.Ala302Glu
ENST00000455748.6:c.503C>A (BBS1)	ENSP00000405764.2:p.Ala168Glu
ENST00000524458.5:c.*583C>A (BBS1)	ENSP00000436195.1:n.*583C>A
ENST00000525809.5:c.521C>A (BBS1)	ENSP00000431187.1:p.Ala174Glu
ENST00000526035.5:c.*497C>A (BBS1)	ENSP00000434197.1:n.*497C>A
ENST00000526760.5:c.*501C>A (BBS1)	ENSP00000432140.1:n.*501C>A
ENST00000526986.5:c.*148G>T (ZDHHC24)	ENSP00000431321.1:n.*148G>T
ENST00000529766.5:n.801C>A (BBS1)
ENST00000529955.5:n.765C>A (BBS1)
ENST00000532908.5:c.*454C>A (BBS1)	ENSP00000431866.1:n.*454C>A
ENST00000533430.5:n.572C>A (BBS1)
ENST00000533557.5:c.*454C>A (BBS1)	ENSP00000434619.1:n.*454C>A
ENST00000533644.5:c.*252C>A (BBS1)	ENSP00000436073.1:n.*252C>A
ENST00000534073.5:c.*270G>T (ZDHHC24)	ENSP00000436503.1:n.*270G>T
ENST00000630659.2:c.*501C>A (BBS1)	ENSP00000486455.1:n.*501C>A
NM_024649.4:c.794C>A (BBS1)	NP_078925.3:p.Ala265Glu
NM_001348571.1:c.*148G>T (ZDHHC24)	NP_001335500.1:n.*148G>T
XR_001747823.2:n.989G>T (ZDHHC24)
XR_949860.3:n.1060G>T (ZDHHC24)
NM_024649.5:c.794C>A (BBS1) MANE Select	NP_078925.3:p.Ala265Glu
NM_001348571.2:c.*148G>T (ZDHHC24)	NP_001335500.1:n.*148G>T