Canonical Allele Identifier: CA10639786

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66533125G>A , CM000673.2:g.66533125G>A	GRCh38
NC_000011.9:g.66300596G>A , CM000673.1:g.66300596G>A	GRCh37
NC_000011.8:g.66057172G>A	NCBI36
NG_009093.1:g.27478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.*1088G>A (BBS1) MANE Select	ENSP00000317469.7:n.*1088G>A
ENST00000318312.11:c.*1088G>A (BBS1)	ENSP00000317469.7:n.*1088G>A
ENST00000419755.3:c.*1088G>A	ENSP00000398526.3:n.*1088G>A
ENST00000526760.5:c.*2785G>A (BBS1)	ENSP00000432140.1:n.*2785G>A
ENST00000526986.5:c.560-3637C>T (ZDHHC24)	ENSP00000431321.1:n.560-3637C>T
ENST00000529955.5:n.2959G>A (BBS1)
ENST00000534073.5:c.560-6119C>T (ZDHHC24)	ENSP00000436503.1:n.560-6119C>T
NM_024649.4:c.*1088G>A (BBS1)	NP_078925.3:n.*1088G>A
XM_005273874.3:c.560-6119C>T (ZDHHC24)	XP_005273931.1:n.560-6119C>T
XM_011544891.1:c.560-3637C>T (ZDHHC24)	XP_011543193.1:n.560-3637C>T
XM_011544894.1:c.560-6119C>T (ZDHHC24)	XP_011543196.1:n.560-6119C>T
XM_011544895.1:c.560-8849C>T (ZDHHC24)	XP_011543197.1:n.560-8849C>T
XR_949860.1:n.616-6119C>T (ZDHHC24)
NM_001348571.1:c.560-3637C>T (ZDHHC24)	NP_001335500.1:n.560-3637C>T
XM_005273874.4:c.560-6119C>T (ZDHHC24)	XP_005273931.1:n.560-6119C>T
XM_011544894.2:c.560-6119C>T (ZDHHC24)	XP_011543196.1:n.560-6119C>T
XR_001747823.2:n.741-8849C>T (ZDHHC24)
XR_949860.3:n.741-6119C>T (ZDHHC24)
NM_024649.5:c.*1088G>A (BBS1) MANE Select	NP_078925.3:n.*1088G>A
NM_001348571.2:c.560-3637C>T (ZDHHC24)	NP_001335500.1:n.560-3637C>T