Canonical Allele Identifier: CA342396

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 21706
• ClinVar RCV Id: RCV000020904 ; RCV003989297
• dbSNP Id: rs113994180
• MyVariant Identifiers: chr11:g.66297288A>G (hg19) ; chr11:g.66529817A>G (hg38)
• PubMed: PMID:12677556 ; PMID:20301537

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66529817A>G , CM000673.2:g.66529817A>G	GRCh38
NC_000011.9:g.66297288A>G , CM000673.1:g.66297288A>G	GRCh37
NC_000011.8:g.66053864A>G	NCBI36
NG_009093.1:g.24170A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1340-2A>G (BBS1) MANE Select	ENSP00000317469.7:n.1340-2A>G
ENST00000318312.11:c.1340-2A>G (BBS1)	ENSP00000317469.7:n.1340-2A>G
ENST00000393994.4:c.953-2A>G (BBS1)	ENSP00000377563.2:n.953-2A>G
ENST00000419755.3:c.1451-2A>G	ENSP00000398526.3:n.1451-2A>G
ENST00000455748.6:c.1049-2A>G (BBS1)	ENSP00000405764.2:n.1049-2A>G
ENST00000526760.5:c.*1047-2A>G (BBS1)	ENSP00000432140.1:n.*1047-2A>G
ENST00000526986.5:c.560-329T>C (ZDHHC24)	ENSP00000431321.1:n.560-329T>C
ENST00000529955.5:n.1311-2A>G (BBS1)
ENST00000534073.5:c.560-2811T>C (ZDHHC24)	ENSP00000436503.1:n.560-2811T>C
ENST00000630659.2:c.*1047-2A>G (BBS1)	ENSP00000486455.1:n.*1047-2A>G
NM_024649.4:c.1340-2A>G (BBS1)	NP_078925.3:n.1340-2A>G
XM_005273874.3:c.560-2811T>C (ZDHHC24)	XP_005273931.1:n.560-2811T>C
XM_011544891.1:c.560-329T>C (ZDHHC24)	XP_011543193.1:n.560-329T>C
XM_011544894.1:c.560-2811T>C (ZDHHC24)	XP_011543196.1:n.560-2811T>C
XM_011544895.1:c.560-5541T>C (ZDHHC24)	XP_011543197.1:n.560-5541T>C
XR_949860.1:n.616-2811T>C (ZDHHC24)
NM_001348571.1:c.560-329T>C (ZDHHC24)	NP_001335500.1:n.560-329T>C
XM_005273874.4:c.560-2811T>C (ZDHHC24)	XP_005273931.1:n.560-2811T>C
XM_011544894.2:c.560-2811T>C (ZDHHC24)	XP_011543196.1:n.560-2811T>C
XR_001747823.2:n.741-5541T>C (ZDHHC24)
XR_949860.3:n.741-2811T>C (ZDHHC24)
NM_024649.5:c.1340-2A>G (BBS1) MANE Select	NP_078925.3:n.1340-2A>G
NM_001348571.2:c.560-329T>C (ZDHHC24)	NP_001335500.1:n.560-329T>C