Canonical Allele Identifier: CA381422568

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 1949272
• ClinVar RCV Id: RCV002676100
• dbSNP Id: rs1856516677
• MyVariant Identifiers: chr11:g.66294164G>T (hg19) ; chr11:g.66526693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526693G>T , CM000673.2:g.66526693G>T	GRCh38
NC_000011.9:g.66294164G>T , CM000673.1:g.66294164G>T	GRCh37
NC_000011.8:g.66050740G>T	NCBI36
NG_009093.1:g.21046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1225G>T (BBS1) MANE Select	ENSP00000317469.7:p.Val409Leu
ENST00000318312.11:c.1225G>T (BBS1)	ENSP00000317469.7:p.Val409Leu
ENST00000393994.4:c.838G>T (BBS1)	ENSP00000377563.2:p.Val280Leu
ENST00000419755.3:c.1336G>T	ENSP00000398526.3:p.Val446Leu
ENST00000455748.6:c.934G>T (BBS1)	ENSP00000405764.2:p.Val312Leu
ENST00000526760.5:c.*932G>T (BBS1)	ENSP00000432140.1:n.*932G>T
ENST00000526986.5:c.*21+243C>A (ZDHHC24)	ENSP00000431321.1:n.*21+243C>A
ENST00000527959.1:n.369G>T (BBS1)
ENST00000529766.5:n.1232G>T (BBS1)
ENST00000529955.5:n.1196G>T (BBS1)
ENST00000534073.5:c.*21+243C>A (ZDHHC24)	ENSP00000436503.1:n.*21+243C>A
ENST00000630659.2:c.*932G>T (BBS1)	ENSP00000486455.1:n.*932G>T
NM_024649.4:c.1225G>T (BBS1)	NP_078925.3:p.Val409Leu
XM_005273874.3:c.*21+243C>A (ZDHHC24)	XP_005273931.1:n.*21+243C>A
XM_011544894.1:c.*21+243C>A (ZDHHC24)	XP_011543196.1:n.*21+243C>A
XM_011544895.1:c.560-2417C>A (ZDHHC24)	XP_011543197.1:n.560-2417C>A
XR_949860.1:n.686+243C>A (ZDHHC24)
NM_001348571.1:c.*21+243C>A (ZDHHC24)	NP_001335500.1:n.*21+243C>A
XM_005273874.4:c.*21+243C>A (ZDHHC24)	XP_005273931.1:n.*21+243C>A
XM_011544894.2:c.*21+243C>A (ZDHHC24)	XP_011543196.1:n.*21+243C>A
XR_001747823.2:n.741-2417C>A (ZDHHC24)
XR_949860.3:n.811+243C>A (ZDHHC24)
NM_024649.5:c.1225G>T (BBS1) MANE Select	NP_078925.3:p.Val409Leu
NM_001348571.2:c.*21+243C>A (ZDHHC24)	NP_001335500.1:n.*21+243C>A