Canonical Allele Identifier: CA938984123

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs1856633944
• gnomAD v3: 11-66528899-C-T
• gnomAD v4: 11-66528899-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66528899C>T , CM000673.2:g.66528899C>T	GRCh38
NC_000011.9:g.66296370C>T , CM000673.1:g.66296370C>T	GRCh37
NC_000011.8:g.66052946C>T	NCBI36
NG_009093.1:g.23252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1340-920C>T (BBS1) MANE Select	ENSP00000317469.7:n.1340-920C>T
ENST00000318312.11:c.1340-920C>T (BBS1)	ENSP00000317469.7:n.1340-920C>T
ENST00000393994.4:c.953-920C>T (BBS1)	ENSP00000377563.2:n.953-920C>T
ENST00000419755.3:c.1451-920C>T	ENSP00000398526.3:n.1451-920C>T
ENST00000455748.6:c.1049-920C>T (BBS1)	ENSP00000405764.2:n.1049-920C>T
ENST00000526760.5:c.*1047-920C>T (BBS1)	ENSP00000432140.1:n.*1047-920C>T
ENST00000526986.5:c.736+413G>A (ZDHHC24)	ENSP00000431321.1:n.736+413G>A
ENST00000529955.5:n.1311-920C>T (BBS1)
ENST00000534073.5:c.560-1893G>A (ZDHHC24)	ENSP00000436503.1:n.560-1893G>A
ENST00000630659.2:c.*1047-920C>T (BBS1)	ENSP00000486455.1:n.*1047-920C>T
NM_024649.4:c.1340-920C>T (BBS1)	NP_078925.3:n.1340-920C>T
XM_005273874.3:c.560-1893G>A (ZDHHC24)	XP_005273931.1:n.560-1893G>A
XM_011544894.1:c.560-1893G>A (ZDHHC24)	XP_011543196.1:n.560-1893G>A
XM_011544895.1:c.560-4623G>A (ZDHHC24)	XP_011543197.1:n.560-4623G>A
XR_949860.1:n.616-1893G>A (ZDHHC24)
NM_001348571.1:c.736+413G>A (ZDHHC24)	NP_001335500.1:n.736+413G>A
XM_005273874.4:c.560-1893G>A (ZDHHC24)	XP_005273931.1:n.560-1893G>A
XM_011544894.2:c.560-1893G>A (ZDHHC24)	XP_011543196.1:n.560-1893G>A
XR_001747823.2:n.741-4623G>A (ZDHHC24)
XR_949860.3:n.741-1893G>A (ZDHHC24)
NM_024649.5:c.1340-920C>T (BBS1) MANE Select	NP_078925.3:n.1340-920C>T
NM_001348571.2:c.736+413G>A (ZDHHC24)	NP_001335500.1:n.736+413G>A