Canonical Allele Identifier: CA475492074

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2743696
• ClinVar RCV Id: RCV003523668
• dbSNP Id: rs1856356904
• MyVariant Identifiers: chr11:g.66291230C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523759C>T , CM000673.2:g.66523759C>T	GRCh38
NC_000011.9:g.66291230C>T , CM000673.1:g.66291230C>T	GRCh37
NC_000011.8:g.66047806C>T	NCBI36
NG_009093.1:g.18112C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.987C>T (BBS1) MANE Select	ENSP00000317469.7:p.Ala329=
ENST00000318312.11:c.987C>T (BBS1)	ENSP00000317469.7:p.Ala329=
ENST00000393994.4:c.724-2364C>T (BBS1)	ENSP00000377563.2:n.724-2364C>T
ENST00000419755.3:c.1098C>T	ENSP00000398526.3:p.Ala366=
ENST00000455748.6:c.696C>T (BBS1)	ENSP00000405764.2:p.Ala232=
ENST00000526760.5:c.*694C>T (BBS1)	ENSP00000432140.1:n.*694C>T
ENST00000526986.5:c.*22-2293G>A (ZDHHC24)	ENSP00000431321.1:n.*22-2293G>A
ENST00000527959.1:n.131C>T (BBS1)
ENST00000529766.5:n.994C>T (BBS1)
ENST00000529895.1:n.436C>T (BBS1)
ENST00000529955.5:n.958C>T (BBS1)
ENST00000532908.5:c.*647C>T (BBS1)	ENSP00000431866.1:n.*647C>T
ENST00000534073.5:c.*143+396G>A (ZDHHC24)	ENSP00000436503.1:n.*143+396G>A
ENST00000630659.2:c.*694C>T (BBS1)	ENSP00000486455.1:n.*694C>T
NM_024649.4:c.987C>T (BBS1)	NP_078925.3:p.Ala329=
XM_005273874.3:c.*22-2293G>A (ZDHHC24)	XP_005273931.1:n.*22-2293G>A
XR_949860.1:n.808+396G>A (ZDHHC24)
NM_001348571.1:c.*22-2293G>A (ZDHHC24)	NP_001335500.1:n.*22-2293G>A
XM_005273874.4:c.*22-2293G>A (ZDHHC24)	XP_005273931.1:n.*22-2293G>A
XR_001747823.2:n.862+396G>A (ZDHHC24)
XR_949860.3:n.933+396G>A (ZDHHC24)
NM_024649.5:c.987C>T (BBS1) MANE Select	NP_078925.3:p.Ala329=
NM_001348571.2:c.*22-2293G>A (ZDHHC24)	NP_001335500.1:n.*22-2293G>A