Canonical Allele Identifier: CA6123700

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 531824
• ClinVar RCV Id: RCV000638357 ; RCV001267196 ; RCV002483815 ; RCV003313119
• dbSNP Id: rs200116631
• ExAC: 11:66294278 G / A
• gnomAD v2: 11-66294278-G-A
• gnomAD v3: 11-66526807-G-A
• gnomAD v4: 11-66526807-G-A
• COSMIC: COSM3967761 ; COSM3967762
• MyVariant Identifiers: chr11:g.66294278G>A (hg19) ; chr11:g.66526807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526807G>A , CM000673.2:g.66526807G>A	GRCh38
NC_000011.9:g.66294278G>A , CM000673.1:g.66294278G>A	GRCh37
NC_000011.8:g.66050854G>A	NCBI36
NG_009093.1:g.21160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339G>A (BBS1) MANE Select	ENSP00000317469.7:p.Ala447Thr
ENST00000318312.11:c.1339G>A (BBS1)	ENSP00000317469.7:p.Ala447Thr
ENST00000393994.4:c.952G>A (BBS1)	ENSP00000377563.2:p.Ala318Thr
ENST00000419755.3:c.1450G>A	ENSP00000398526.3:p.Ala484Thr
ENST00000455748.6:c.1048G>A (BBS1)	ENSP00000405764.2:p.Ala350Thr
ENST00000526760.5:c.*1046G>A (BBS1)	ENSP00000432140.1:n.*1046G>A
ENST00000526986.5:c.*21+129C>T (ZDHHC24)	ENSP00000431321.1:n.*21+129C>T
ENST00000527959.1:n.483G>A (BBS1)
ENST00000529766.5:n.1346G>A (BBS1)
ENST00000529955.5:n.1310G>A (BBS1)
ENST00000534073.5:c.*21+129C>T (ZDHHC24)	ENSP00000436503.1:n.*21+129C>T
ENST00000630659.2:c.*1046G>A (BBS1)	ENSP00000486455.1:n.*1046G>A
NM_024649.4:c.1339G>A (BBS1)	NP_078925.3:p.Ala447Thr
XM_005273874.3:c.*21+129C>T (ZDHHC24)	XP_005273931.1:n.*21+129C>T
XM_011544894.1:c.*21+129C>T (ZDHHC24)	XP_011543196.1:n.*21+129C>T
XM_011544895.1:c.560-2531C>T (ZDHHC24)	XP_011543197.1:n.560-2531C>T
XR_949860.1:n.686+129C>T (ZDHHC24)
NM_001348571.1:c.*21+129C>T (ZDHHC24)	NP_001335500.1:n.*21+129C>T
XM_005273874.4:c.*21+129C>T (ZDHHC24)	XP_005273931.1:n.*21+129C>T
XM_011544894.2:c.*21+129C>T (ZDHHC24)	XP_011543196.1:n.*21+129C>T
XR_001747823.2:n.741-2531C>T (ZDHHC24)
XR_949860.3:n.811+129C>T (ZDHHC24)
NM_024649.5:c.1339G>A (BBS1) MANE Select	NP_078925.3:p.Ala447Thr
NM_001348571.2:c.*21+129C>T (ZDHHC24)	NP_001335500.1:n.*21+129C>T