Canonical Allele Identifier: CA6123510
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Linked Data

ClinVar Variation Id: 305462
dbSNP Id: rs781283997

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66521388C>T , CM000673.2:g.66521388C>T GRCh38
NC_000011.9:g.66288859C>T , CM000673.1:g.66288859C>T GRCh37
NC_000011.8:g.66045435C>T NCBI36
NG_009093.1:g.15741C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.830+12C>T (BBS1) MANE Select ENSP00000317469.7:n.830+12C>T
ENST00000318312.11:c.830+12C>T (BBS1) ENSP00000317469.7:n.830+12C>T
ENST00000393994.4:c.723+1640C>T (BBS1) ENSP00000377563.2:n.723+1640C>T
ENST00000419755.3:c.941+12C>T ENSP00000398526.3:n.941+12C>T
ENST00000455748.6:c.539+12C>T (BBS1) ENSP00000405764.2:n.539+12C>T
ENST00000524458.5:c.*619+12C>T (BBS1) ENSP00000436195.1:n.*619+12C>T
ENST00000525809.5:c.557+12C>T (BBS1) ENSP00000431187.1:n.557+12C>T
ENST00000526035.5:c.*533+12C>T (BBS1) ENSP00000434197.1:n.*533+12C>T
ENST00000526760.5:c.*537+12C>T (BBS1) ENSP00000432140.1:n.*537+12C>T
ENST00000526986.5:c.*100G>A (ZDHHC24) ENSP00000431321.1:n.*100G>A
ENST00000529766.5:n.837+12C>T (BBS1)
ENST00000529955.5:n.801+12C>T (BBS1)
ENST00000532908.5:c.*490+12C>T (BBS1) ENSP00000431866.1:n.*490+12C>T
ENST00000533430.5:n.620C>T (BBS1)
ENST00000533557.5:c.*490+12C>T (BBS1) ENSP00000434619.1:n.*490+12C>T
ENST00000533644.5:c.*288+12C>T (BBS1) ENSP00000436073.1:n.*288+12C>T
ENST00000534073.5:c.*222G>A (ZDHHC24) ENSP00000436503.1:n.*222G>A
ENST00000630659.2:c.*537+12C>T (BBS1) ENSP00000486455.1:n.*537+12C>T
NM_024649.4:c.830+12C>T (BBS1) NP_078925.3:n.830+12C>T
XM_005273874.3:c.*100G>A (ZDHHC24) XP_005273931.1:n.*100G>A
XR_949860.1:n.887G>A (ZDHHC24)
NM_001348571.1:c.*100G>A (ZDHHC24) NP_001335500.1:n.*100G>A
XM_005273874.4:c.*100G>A (ZDHHC24) XP_005273931.1:n.*100G>A
XR_001747823.2:n.941G>A (ZDHHC24)
XR_949860.3:n.1012G>A (ZDHHC24)
NM_024649.5:c.830+12C>T (BBS1) MANE Select NP_078925.3:n.830+12C>T
NM_001348571.2:c.*100G>A (ZDHHC24) NP_001335500.1:n.*100G>A