Canonical Allele Identifier: CA6123804

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2194205
• ClinVar RCV Id: RCV002647356 ; RCV003889255
• dbSNP Id: rs369653969
• ExAC: 11:66298425 C / T
• gnomAD v2: 11-66298425-C-T
• gnomAD v4: 11-66530954-C-T
• MyVariant Identifiers: chr11:g.66298425C>T (hg19) ; chr11:g.66530954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66530954C>T , CM000673.2:g.66530954C>T	GRCh38
NC_000011.9:g.66298425C>T , CM000673.1:g.66298425C>T	GRCh37
NC_000011.8:g.66055001C>T	NCBI36
NG_009093.1:g.25307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1534C>T (BBS1) MANE Select	ENSP00000317469.7:p.Arg512Cys
ENST00000318312.11:c.1534C>T (BBS1)	ENSP00000317469.7:p.Arg512Cys
ENST00000393994.4:c.1147C>T (BBS1)	ENSP00000377563.2:p.Arg383Cys
ENST00000419755.3:c.1645C>T	ENSP00000398526.3:p.Arg549Cys
ENST00000455748.6:c.1243C>T (BBS1)	ENSP00000405764.2:p.Arg415Cys
ENST00000526760.5:c.*1241C>T (BBS1)	ENSP00000432140.1:n.*1241C>T
ENST00000526986.5:c.560-1466G>A (ZDHHC24)	ENSP00000431321.1:n.560-1466G>A
ENST00000529955.5:n.1505C>T (BBS1)
ENST00000534073.5:c.560-3948G>A (ZDHHC24)	ENSP00000436503.1:n.560-3948G>A
ENST00000630659.2:c.*1241C>T (BBS1)	ENSP00000486455.1:n.*1241C>T
NM_024649.4:c.1534C>T (BBS1)	NP_078925.3:p.Arg512Cys
XM_005273874.3:c.560-3948G>A (ZDHHC24)	XP_005273931.1:n.560-3948G>A
XM_011544891.1:c.560-1466G>A (ZDHHC24)	XP_011543193.1:n.560-1466G>A
XM_011544894.1:c.560-3948G>A (ZDHHC24)	XP_011543196.1:n.560-3948G>A
XM_011544895.1:c.560-6678G>A (ZDHHC24)	XP_011543197.1:n.560-6678G>A
XR_949860.1:n.616-3948G>A (ZDHHC24)
NM_001348571.1:c.560-1466G>A (ZDHHC24)	NP_001335500.1:n.560-1466G>A
XM_005273874.4:c.560-3948G>A (ZDHHC24)	XP_005273931.1:n.560-3948G>A
XM_011544894.2:c.560-3948G>A (ZDHHC24)	XP_011543196.1:n.560-3948G>A
XR_001747823.2:n.741-6678G>A (ZDHHC24)
XR_949860.3:n.741-3948G>A (ZDHHC24)
NM_024649.5:c.1534C>T (BBS1) MANE Select	NP_078925.3:p.Arg512Cys
NM_001348571.2:c.560-1466G>A (ZDHHC24)	NP_001335500.1:n.560-1466G>A