Canonical Allele Identifier: CA475337251

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2873348
• ClinVar RCV Id: RCV003633198
• dbSNP Id: rs1318932021
• gnomAD v4: 11-66526689-G-A
• MyVariant Identifiers: chr11:g.66294160G>A (hg19) ; chr11:g.66526689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526689G>A , CM000673.2:g.66526689G>A	GRCh38
NC_000011.9:g.66294160G>A , CM000673.1:g.66294160G>A	GRCh37
NC_000011.8:g.66050736G>A	NCBI36
NG_009093.1:g.21042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1221G>A (BBS1) MANE Select	ENSP00000317469.7:p.Val407=
ENST00000318312.11:c.1221G>A (BBS1)	ENSP00000317469.7:p.Val407=
ENST00000393994.4:c.834G>A (BBS1)	ENSP00000377563.2:p.Val278=
ENST00000419755.3:c.1332G>A	ENSP00000398526.3:p.Val444=
ENST00000455748.6:c.930G>A (BBS1)	ENSP00000405764.2:p.Val310=
ENST00000526760.5:c.*928G>A (BBS1)	ENSP00000432140.1:n.*928G>A
ENST00000526986.5:c.*21+247C>T (ZDHHC24)	ENSP00000431321.1:n.*21+247C>T
ENST00000527959.1:n.365G>A (BBS1)
ENST00000529766.5:n.1228G>A (BBS1)
ENST00000529955.5:n.1192G>A (BBS1)
ENST00000534073.5:c.*21+247C>T (ZDHHC24)	ENSP00000436503.1:n.*21+247C>T
ENST00000630659.2:c.*928G>A (BBS1)	ENSP00000486455.1:n.*928G>A
NM_024649.4:c.1221G>A (BBS1)	NP_078925.3:p.Val407=
XM_005273874.3:c.*21+247C>T (ZDHHC24)	XP_005273931.1:n.*21+247C>T
XM_011544894.1:c.*21+247C>T (ZDHHC24)	XP_011543196.1:n.*21+247C>T
XM_011544895.1:c.560-2413C>T (ZDHHC24)	XP_011543197.1:n.560-2413C>T
XR_949860.1:n.686+247C>T (ZDHHC24)
NM_001348571.1:c.*21+247C>T (ZDHHC24)	NP_001335500.1:n.*21+247C>T
XM_005273874.4:c.*21+247C>T (ZDHHC24)	XP_005273931.1:n.*21+247C>T
XM_011544894.2:c.*21+247C>T (ZDHHC24)	XP_011543196.1:n.*21+247C>T
XR_001747823.2:n.741-2413C>T (ZDHHC24)
XR_949860.3:n.811+247C>T (ZDHHC24)
NM_024649.5:c.1221G>A (BBS1) MANE Select	NP_078925.3:p.Val407=
NM_001348571.2:c.*21+247C>T (ZDHHC24)	NP_001335500.1:n.*21+247C>T