Canonical Allele Identifier: CA6123543

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523515G>A , CM000673.2:g.66523515G>A	GRCh38
NC_000011.9:g.66290986G>A , CM000673.1:g.66290986G>A	GRCh37
NC_000011.8:g.66047562G>A	NCBI36
NG_009093.1:g.17868G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.890G>A (BBS1) MANE Select	NP_078925.3:p.Arg297Gln
ENST00000318312.12:c.890G>A (BBS1) MANE Select	ENSP00000317469.7:p.Arg297Gln
NM_001348571.1:c.*22-2049C>T (ZDHHC24)	NP_001335500.1:n.*22-2049C>T
NM_001348571.2:c.*22-2049C>T (ZDHHC24)	NP_001335500.1:n.*22-2049C>T
NM_024649.4:c.890G>A (BBS1)	NP_078925.3:p.Arg297Gln
ENST00000318312.11:c.890G>A (BBS1)	ENSP00000317469.7:p.Arg297Gln
ENST00000393994.4:c.724-2608G>A (BBS1)	ENSP00000377563.2:n.724-2608G>A
ENST00000419755.3:c.1001G>A	ENSP00000398526.3:p.Arg334Gln
ENST00000455748.6:c.599G>A (BBS1)	ENSP00000405764.2:p.Arg200Gln
ENST00000524458.5:c.*679G>A (BBS1)	ENSP00000436195.1:n.*679G>A
ENST00000526760.5:c.*597G>A (BBS1)	ENSP00000432140.1:n.*597G>A
ENST00000526986.5:c.*22-2049C>T (ZDHHC24)	ENSP00000431321.1:n.*22-2049C>T
ENST00000527959.1:n.34G>A (BBS1)
ENST00000529766.5:n.897G>A (BBS1)
ENST00000529895.1:n.339G>A (BBS1)
ENST00000529955.5:n.861G>A (BBS1)
ENST00000532908.5:c.*550G>A (BBS1)	ENSP00000431866.1:n.*550G>A
ENST00000533557.5:c.*744G>A (BBS1)	ENSP00000434619.1:n.*744G>A
ENST00000533644.5:c.*348G>A (BBS1)	ENSP00000436073.1:n.*348G>A
ENST00000534073.5:c.*143+640C>T (ZDHHC24)	ENSP00000436503.1:n.*143+640C>T
ENST00000630659.2:c.*597G>A (BBS1)	ENSP00000486455.1:n.*597G>A
XM_005273874.3:c.*22-2049C>T (ZDHHC24)	XP_005273931.1:n.*22-2049C>T
XM_005273874.4:c.*22-2049C>T (ZDHHC24)	XP_005273931.1:n.*22-2049C>T
XR_001747823.2:n.862+640C>T (ZDHHC24)
XR_949860.1:n.808+640C>T (ZDHHC24)
XR_949860.3:n.933+640C>T (ZDHHC24)