Canonical Allele Identifier: CA381423961

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 1517252
• ClinVar RCV Id: RCV002027215
• dbSNP Id: rs1271245314
• gnomAD v2: 11-66297346-G-A
• gnomAD v4: 11-66529875-G-A
• COSMIC: COSM5469724 ; COSM5469725
• MyVariant Identifiers: chr11:g.66297346G>A (hg19) ; chr11:g.66529875G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66529875G>A , CM000673.2:g.66529875G>A	GRCh38
NC_000011.9:g.66297346G>A , CM000673.1:g.66297346G>A	GRCh37
NC_000011.8:g.66053922G>A	NCBI36
NG_009093.1:g.24228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1396G>A (BBS1) MANE Select	ENSP00000317469.7:p.Ala466Thr
ENST00000318312.11:c.1396G>A (BBS1)	ENSP00000317469.7:p.Ala466Thr
ENST00000393994.4:c.1009G>A (BBS1)	ENSP00000377563.2:p.Ala337Thr
ENST00000419755.3:c.1507G>A	ENSP00000398526.3:p.Ala503Thr
ENST00000455748.6:c.1105G>A (BBS1)	ENSP00000405764.2:p.Ala369Thr
ENST00000526760.5:c.*1103G>A (BBS1)	ENSP00000432140.1:n.*1103G>A
ENST00000526986.5:c.560-387C>T (ZDHHC24)	ENSP00000431321.1:n.560-387C>T
ENST00000529955.5:n.1367G>A (BBS1)
ENST00000534073.5:c.560-2869C>T (ZDHHC24)	ENSP00000436503.1:n.560-2869C>T
ENST00000630659.2:c.*1103G>A (BBS1)	ENSP00000486455.1:n.*1103G>A
NM_024649.4:c.1396G>A (BBS1)	NP_078925.3:p.Ala466Thr
XM_005273874.3:c.560-2869C>T (ZDHHC24)	XP_005273931.1:n.560-2869C>T
XM_011544891.1:c.560-387C>T (ZDHHC24)	XP_011543193.1:n.560-387C>T
XM_011544894.1:c.560-2869C>T (ZDHHC24)	XP_011543196.1:n.560-2869C>T
XM_011544895.1:c.560-5599C>T (ZDHHC24)	XP_011543197.1:n.560-5599C>T
XR_949860.1:n.616-2869C>T (ZDHHC24)
NM_001348571.1:c.560-387C>T (ZDHHC24)	NP_001335500.1:n.560-387C>T
XM_005273874.4:c.560-2869C>T (ZDHHC24)	XP_005273931.1:n.560-2869C>T
XM_011544894.2:c.560-2869C>T (ZDHHC24)	XP_011543196.1:n.560-2869C>T
XR_001747823.2:n.741-5599C>T (ZDHHC24)
XR_949860.3:n.741-2869C>T (ZDHHC24)
NM_024649.5:c.1396G>A (BBS1) MANE Select	NP_078925.3:p.Ala466Thr
NM_001348571.2:c.560-387C>T (ZDHHC24)	NP_001335500.1:n.560-387C>T