Canonical Allele Identifier: CA381462181

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs1189989341
• gnomAD v2: 11-66291237-A-G
• MyVariant Identifiers: chr11:g.66291237A>G (hg19) ; chr11:g.66523766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523766A>G , CM000673.2:g.66523766A>G	GRCh38
NC_000011.9:g.66291237A>G , CM000673.1:g.66291237A>G	GRCh37
NC_000011.8:g.66047813A>G	NCBI36
NG_009093.1:g.18119A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.994A>G (BBS1) MANE Select	ENSP00000317469.7:p.Thr332Ala
ENST00000318312.11:c.994A>G (BBS1)	ENSP00000317469.7:p.Thr332Ala
ENST00000393994.4:c.724-2357A>G (BBS1)	ENSP00000377563.2:n.724-2357A>G
ENST00000419755.3:c.1105A>G	ENSP00000398526.3:p.Thr369Ala
ENST00000455748.6:c.703A>G (BBS1)	ENSP00000405764.2:p.Thr235Ala
ENST00000526760.5:c.*701A>G (BBS1)	ENSP00000432140.1:n.*701A>G
ENST00000526986.5:c.*22-2300T>C (ZDHHC24)	ENSP00000431321.1:n.*22-2300T>C
ENST00000527959.1:n.138A>G (BBS1)
ENST00000529766.5:n.1001A>G (BBS1)
ENST00000529895.1:n.443A>G (BBS1)
ENST00000529955.5:n.965A>G (BBS1)
ENST00000532908.5:c.*654A>G (BBS1)	ENSP00000431866.1:n.*654A>G
ENST00000534073.5:c.*143+389T>C (ZDHHC24)	ENSP00000436503.1:n.*143+389T>C
ENST00000630659.2:c.*701A>G (BBS1)	ENSP00000486455.1:n.*701A>G
NM_024649.4:c.994A>G (BBS1)	NP_078925.3:p.Thr332Ala
XM_005273874.3:c.*22-2300T>C (ZDHHC24)	XP_005273931.1:n.*22-2300T>C
XR_949860.1:n.808+389T>C (ZDHHC24)
NM_001348571.1:c.*22-2300T>C (ZDHHC24)	NP_001335500.1:n.*22-2300T>C
XM_005273874.4:c.*22-2300T>C (ZDHHC24)	XP_005273931.1:n.*22-2300T>C
XR_001747823.2:n.862+389T>C (ZDHHC24)
XR_949860.3:n.933+389T>C (ZDHHC24)
NM_024649.5:c.994A>G (BBS1) MANE Select	NP_078925.3:p.Thr332Ala
NM_001348571.2:c.*22-2300T>C (ZDHHC24)	NP_001335500.1:n.*22-2300T>C