Canonical Allele Identifier: CA6123669
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Linked Data

ClinVar Variation Id: 434479
dbSNP Id: rs141528309

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66526649G>A , CM000673.2:g.66526649G>A GRCh38
NC_000011.9:g.66294120G>A , CM000673.1:g.66294120G>A GRCh37
NC_000011.8:g.66050696G>A NCBI36
NG_009093.1:g.21002G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.1181G>A (BBS1) MANE Select ENSP00000317469.7:p.Gly394Asp
ENST00000318312.11:c.1181G>A (BBS1) ENSP00000317469.7:p.Gly394Asp
ENST00000393994.4:c.794G>A (BBS1) ENSP00000377563.2:p.Gly265Asp
ENST00000419755.3:c.1292G>A ENSP00000398526.3:p.Gly431Asp
ENST00000455748.6:c.890G>A (BBS1) ENSP00000405764.2:p.Gly297Asp
ENST00000526760.5:c.*888G>A (BBS1) ENSP00000432140.1:n.*888G>A
ENST00000526986.5:c.*21+287C>T (ZDHHC24) ENSP00000431321.1:n.*21+287C>T
ENST00000527959.1:n.325G>A (BBS1)
ENST00000529766.5:n.1188G>A (BBS1)
ENST00000529955.5:n.1152G>A (BBS1)
ENST00000534073.5:c.*21+287C>T (ZDHHC24) ENSP00000436503.1:n.*21+287C>T
ENST00000630659.2:c.*888G>A (BBS1) ENSP00000486455.1:n.*888G>A
NM_024649.4:c.1181G>A (BBS1) NP_078925.3:p.Gly394Asp
XM_005273874.3:c.*21+287C>T (ZDHHC24) XP_005273931.1:n.*21+287C>T
XM_011544894.1:c.*21+287C>T (ZDHHC24) XP_011543196.1:n.*21+287C>T
XM_011544895.1:c.560-2373C>T (ZDHHC24) XP_011543197.1:n.560-2373C>T
XR_949860.1:n.686+287C>T (ZDHHC24)
NM_001348571.1:c.*21+287C>T (ZDHHC24) NP_001335500.1:n.*21+287C>T
XM_005273874.4:c.*21+287C>T (ZDHHC24) XP_005273931.1:n.*21+287C>T
XM_011544894.2:c.*21+287C>T (ZDHHC24) XP_011543196.1:n.*21+287C>T
XR_001747823.2:n.741-2373C>T (ZDHHC24)
XR_949860.3:n.811+287C>T (ZDHHC24)
NM_024649.5:c.1181G>A (BBS1) MANE Select NP_078925.3:p.Gly394Asp
NM_001348571.2:c.*21+287C>T (ZDHHC24) NP_001335500.1:n.*21+287C>T