Canonical Allele Identifier: CA6123583
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Linked Data

ClinVar Variation Id: 305464
dbSNP Id: rs142243482

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66523753C>T , CM000673.2:g.66523753C>T GRCh38
NC_000011.9:g.66291224C>T , CM000673.1:g.66291224C>T GRCh37
NC_000011.8:g.66047800C>T NCBI36
NG_009093.1:g.18106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.981C>T (BBS1) MANE Select ENSP00000317469.7:p.Pro327=
ENST00000318312.11:c.981C>T (BBS1) ENSP00000317469.7:p.Pro327=
ENST00000393994.4:c.724-2370C>T (BBS1) ENSP00000377563.2:n.724-2370C>T
ENST00000419755.3:c.1092C>T ENSP00000398526.3:p.Pro364=
ENST00000455748.6:c.690C>T (BBS1) ENSP00000405764.2:p.Pro230=
ENST00000526760.5:c.*688C>T (BBS1) ENSP00000432140.1:n.*688C>T
ENST00000526986.5:c.*22-2287G>A (ZDHHC24) ENSP00000431321.1:n.*22-2287G>A
ENST00000527959.1:n.125C>T (BBS1)
ENST00000529766.5:n.988C>T (BBS1)
ENST00000529895.1:n.430C>T (BBS1)
ENST00000529955.5:n.952C>T (BBS1)
ENST00000532908.5:c.*641C>T (BBS1) ENSP00000431866.1:n.*641C>T
ENST00000534073.5:c.*143+402G>A (ZDHHC24) ENSP00000436503.1:n.*143+402G>A
ENST00000630659.2:c.*688C>T (BBS1) ENSP00000486455.1:n.*688C>T
NM_024649.4:c.981C>T (BBS1) NP_078925.3:p.Pro327=
XM_005273874.3:c.*22-2287G>A (ZDHHC24) XP_005273931.1:n.*22-2287G>A
XR_949860.1:n.808+402G>A (ZDHHC24)
NM_001348571.1:c.*22-2287G>A (ZDHHC24) NP_001335500.1:n.*22-2287G>A
XM_005273874.4:c.*22-2287G>A (ZDHHC24) XP_005273931.1:n.*22-2287G>A
XR_001747823.2:n.862+402G>A (ZDHHC24)
XR_949860.3:n.933+402G>A (ZDHHC24)
NM_024649.5:c.981C>T (BBS1) MANE Select NP_078925.3:p.Pro327=
NM_001348571.2:c.*22-2287G>A (ZDHHC24) NP_001335500.1:n.*22-2287G>A