Canonical Allele Identifier: CA6123586

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs759690825
• ExAC: 11:66291248 C / T
• gnomAD v2: 11-66291248-C-T
• gnomAD v4: 11-66523777-C-T
• MyVariant Identifiers: chr11:g.66291248C>T (hg19) ; chr11:g.66523777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523777C>T , CM000673.2:g.66523777C>T	GRCh38
NC_000011.9:g.66291248C>T , CM000673.1:g.66291248C>T	GRCh37
NC_000011.8:g.66047824C>T	NCBI36
NG_009093.1:g.18130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1005C>T (BBS1) MANE Select	ENSP00000317469.7:p.Leu335=
ENST00000318312.11:c.1005C>T (BBS1)	ENSP00000317469.7:p.Leu335=
ENST00000393994.4:c.724-2346C>T (BBS1)	ENSP00000377563.2:n.724-2346C>T
ENST00000419755.3:c.1116C>T	ENSP00000398526.3:p.Leu372=
ENST00000455748.6:c.714C>T (BBS1)	ENSP00000405764.2:p.Leu238=
ENST00000526760.5:c.*712C>T (BBS1)	ENSP00000432140.1:n.*712C>T
ENST00000526986.5:c.*22-2311G>A (ZDHHC24)	ENSP00000431321.1:n.*22-2311G>A
ENST00000527959.1:n.149C>T (BBS1)
ENST00000529766.5:n.1012C>T (BBS1)
ENST00000529895.1:n.454C>T (BBS1)
ENST00000529955.5:n.976C>T (BBS1)
ENST00000532908.5:c.*665C>T (BBS1)	ENSP00000431866.1:n.*665C>T
ENST00000534073.5:c.*143+378G>A (ZDHHC24)	ENSP00000436503.1:n.*143+378G>A
ENST00000630659.2:c.*712C>T (BBS1)	ENSP00000486455.1:n.*712C>T
NM_024649.4:c.1005C>T (BBS1)	NP_078925.3:p.Leu335=
XM_005273874.3:c.*22-2311G>A (ZDHHC24)	XP_005273931.1:n.*22-2311G>A
XR_949860.1:n.808+378G>A (ZDHHC24)
NM_001348571.1:c.*22-2311G>A (ZDHHC24)	NP_001335500.1:n.*22-2311G>A
XM_005273874.4:c.*22-2311G>A (ZDHHC24)	XP_005273931.1:n.*22-2311G>A
XR_001747823.2:n.862+378G>A (ZDHHC24)
XR_949860.3:n.933+378G>A (ZDHHC24)
NM_024649.5:c.1005C>T (BBS1) MANE Select	NP_078925.3:p.Leu335=
NM_001348571.2:c.*22-2311G>A (ZDHHC24)	NP_001335500.1:n.*22-2311G>A