Canonical Allele Identifier: CA381461421

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523488T>G , CM000673.2:g.66523488T>G	GRCh38
NC_000011.9:g.66290959T>G , CM000673.1:g.66290959T>G	GRCh37
NC_000011.8:g.66047535T>G	NCBI36
NG_009093.1:g.17841T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.863T>G (BBS1) MANE Select	NP_078925.3:p.Leu288Arg
ENST00000318312.12:c.863T>G (BBS1) MANE Select	ENSP00000317469.7:p.Leu288Arg
NM_001348571.1:c.*22-2022A>C (ZDHHC24)	NP_001335500.1:n.*22-2022A>C
NM_001348571.2:c.*22-2022A>C (ZDHHC24)	NP_001335500.1:n.*22-2022A>C
NM_024649.4:c.863T>G (BBS1)	NP_078925.3:p.Leu288Arg
ENST00000318312.11:c.863T>G (BBS1)	ENSP00000317469.7:p.Leu288Arg
ENST00000393994.4:c.724-2635T>G (BBS1)	ENSP00000377563.2:n.724-2635T>G
ENST00000419755.3:c.974T>G	ENSP00000398526.3:p.Leu325Arg
ENST00000455748.6:c.572T>G (BBS1)	ENSP00000405764.2:p.Leu191Arg
ENST00000524458.5:c.*652T>G (BBS1)	ENSP00000436195.1:n.*652T>G
ENST00000524884.1:n.548T>G (BBS1)
ENST00000526760.5:c.*570T>G (BBS1)	ENSP00000432140.1:n.*570T>G
ENST00000526986.5:c.*22-2022A>C (ZDHHC24)	ENSP00000431321.1:n.*22-2022A>C
ENST00000527959.1:n.7T>G (BBS1)
ENST00000529766.5:n.870T>G (BBS1)
ENST00000529895.1:n.312T>G (BBS1)
ENST00000529955.5:n.834T>G (BBS1)
ENST00000532908.5:c.*523T>G (BBS1)	ENSP00000431866.1:n.*523T>G
ENST00000533557.5:c.*717T>G (BBS1)	ENSP00000434619.1:n.*717T>G
ENST00000533644.5:c.*321T>G (BBS1)	ENSP00000436073.1:n.*321T>G
ENST00000534073.5:c.*143+667A>C (ZDHHC24)	ENSP00000436503.1:n.*143+667A>C
ENST00000630659.2:c.*570T>G (BBS1)	ENSP00000486455.1:n.*570T>G
XM_005273874.3:c.*22-2022A>C (ZDHHC24)	XP_005273931.1:n.*22-2022A>C
XM_005273874.4:c.*22-2022A>C (ZDHHC24)	XP_005273931.1:n.*22-2022A>C
XR_001747823.2:n.862+667A>C (ZDHHC24)
XR_949860.1:n.808+667A>C (ZDHHC24)
XR_949860.3:n.933+667A>C (ZDHHC24)