Canonical Allele Identifier: CA6123822

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531015G>A , CM000673.2:g.66531015G>A	GRCh38
NC_000011.9:g.66298486G>A , CM000673.1:g.66298486G>A	GRCh37
NC_000011.8:g.66055062G>A	NCBI36
NG_009093.1:g.25368G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.1595G>A (BBS1) MANE Select	NP_078925.3:p.Arg532Gln
ENST00000318312.12:c.1595G>A (BBS1) MANE Select	ENSP00000317469.7:p.Arg532Gln
NM_001348571.1:c.560-1527C>T (ZDHHC24)	NP_001335500.1:n.560-1527C>T
NM_001348571.2:c.560-1527C>T (ZDHHC24)	NP_001335500.1:n.560-1527C>T
NM_024649.4:c.1595G>A (BBS1)	NP_078925.3:p.Arg532Gln
ENST00000318312.11:c.1595G>A (BBS1)	ENSP00000317469.7:p.Arg532Gln
ENST00000393994.4:c.1208G>A (BBS1)	ENSP00000377563.2:p.Arg403Gln
ENST00000419755.3:c.1706G>A	ENSP00000398526.3:p.Arg569Gln
ENST00000455748.6:c.1304G>A (BBS1)	ENSP00000405764.2:p.Arg435Gln
ENST00000526760.5:c.*1302G>A (BBS1)	ENSP00000432140.1:n.*1302G>A
ENST00000526986.5:c.560-1527C>T (ZDHHC24)	ENSP00000431321.1:n.560-1527C>T
ENST00000529955.5:n.1566G>A (BBS1)
ENST00000534073.5:c.560-4009C>T (ZDHHC24)	ENSP00000436503.1:n.560-4009C>T
ENST00000630659.2:c.*1302G>A (BBS1)	ENSP00000486455.1:n.*1302G>A
XM_005273874.3:c.560-4009C>T (ZDHHC24)	XP_005273931.1:n.560-4009C>T
XM_005273874.4:c.560-4009C>T (ZDHHC24)	XP_005273931.1:n.560-4009C>T
XM_011544891.1:c.560-1527C>T (ZDHHC24)	XP_011543193.1:n.560-1527C>T
XM_011544894.1:c.560-4009C>T (ZDHHC24)	XP_011543196.1:n.560-4009C>T
XM_011544894.2:c.560-4009C>T (ZDHHC24)	XP_011543196.1:n.560-4009C>T
XM_011544895.1:c.560-6739C>T (ZDHHC24)	XP_011543197.1:n.560-6739C>T
XR_001747823.2:n.741-6739C>T (ZDHHC24)
XR_949860.1:n.616-4009C>T (ZDHHC24)
XR_949860.3:n.741-4009C>T (ZDHHC24)