Canonical Allele Identifier: CA224077094

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523526G>A , CM000673.2:g.66523526G>A	GRCh38
NC_000011.9:g.66290997G>A , CM000673.1:g.66290997G>A	GRCh37
NC_000011.8:g.66047573G>A	NCBI36
NG_009093.1:g.17879G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.901G>A (BBS1) MANE Select	NP_078925.3:p.Val301Ile
ENST00000318312.12:c.901G>A (BBS1) MANE Select	ENSP00000317469.7:p.Val301Ile
NM_001348571.1:c.*22-2060C>T (ZDHHC24)	NP_001335500.1:n.*22-2060C>T
NM_001348571.2:c.*22-2060C>T (ZDHHC24)	NP_001335500.1:n.*22-2060C>T
NM_024649.4:c.901G>A (BBS1)	NP_078925.3:p.Val301Ile
ENST00000318312.11:c.901G>A (BBS1)	ENSP00000317469.7:p.Val301Ile
ENST00000393994.4:c.724-2597G>A (BBS1)	ENSP00000377563.2:n.724-2597G>A
ENST00000419755.3:c.1012G>A	ENSP00000398526.3:p.Val338Ile
ENST00000455748.6:c.610G>A (BBS1)	ENSP00000405764.2:p.Val204Ile
ENST00000526760.5:c.*608G>A (BBS1)	ENSP00000432140.1:n.*608G>A
ENST00000526986.5:c.*22-2060C>T (ZDHHC24)	ENSP00000431321.1:n.*22-2060C>T
ENST00000527959.1:n.45G>A (BBS1)
ENST00000529766.5:n.908G>A (BBS1)
ENST00000529895.1:n.350G>A (BBS1)
ENST00000529955.5:n.872G>A (BBS1)
ENST00000532908.5:c.*561G>A (BBS1)	ENSP00000431866.1:n.*561G>A
ENST00000533557.5:c.*755G>A (BBS1)	ENSP00000434619.1:n.*755G>A
ENST00000533644.5:c.*359G>A (BBS1)	ENSP00000436073.1:n.*359G>A
ENST00000534073.5:c.*143+629C>T (ZDHHC24)	ENSP00000436503.1:n.*143+629C>T
ENST00000630659.2:c.*608G>A (BBS1)	ENSP00000486455.1:n.*608G>A
XM_005273874.3:c.*22-2060C>T (ZDHHC24)	XP_005273931.1:n.*22-2060C>T
XM_005273874.4:c.*22-2060C>T (ZDHHC24)	XP_005273931.1:n.*22-2060C>T
XR_001747823.2:n.862+629C>T (ZDHHC24)
XR_949860.1:n.808+629C>T (ZDHHC24)
XR_949860.3:n.933+629C>T (ZDHHC24)