Canonical Allele Identifier: CA475492139

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs1343450264
• gnomAD v2: 11-66291326-G-A
• MyVariant Identifiers: chr11:g.66291326G>A (hg19) ; chr11:g.66523855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523855G>A , CM000673.2:g.66523855G>A	GRCh38
NC_000011.9:g.66291326G>A , CM000673.1:g.66291326G>A	GRCh37
NC_000011.8:g.66047902G>A	NCBI36
NG_009093.1:g.18208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1083G>A (BBS1) MANE Select	ENSP00000317469.7:p.Lys361=
ENST00000318312.11:c.1083G>A (BBS1)	ENSP00000317469.7:p.Lys361=
ENST00000393994.4:c.724-2268G>A (BBS1)	ENSP00000377563.2:n.724-2268G>A
ENST00000419755.3:c.1194G>A	ENSP00000398526.3:p.Lys398=
ENST00000455748.6:c.792G>A (BBS1)	ENSP00000405764.2:p.Lys264=
ENST00000526760.5:c.*790G>A (BBS1)	ENSP00000432140.1:n.*790G>A
ENST00000526986.5:c.*22-2389C>T (ZDHHC24)	ENSP00000431321.1:n.*22-2389C>T
ENST00000527959.1:n.227G>A (BBS1)
ENST00000529766.5:n.1090G>A (BBS1)
ENST00000529895.1:n.532G>A (BBS1)
ENST00000529955.5:n.1054G>A (BBS1)
ENST00000534073.5:c.*143+300C>T (ZDHHC24)	ENSP00000436503.1:n.*143+300C>T
ENST00000630659.2:c.*790G>A (BBS1)	ENSP00000486455.1:n.*790G>A
NM_024649.4:c.1083G>A (BBS1)	NP_078925.3:p.Lys361=
XM_005273874.3:c.*22-2389C>T (ZDHHC24)	XP_005273931.1:n.*22-2389C>T
XR_949860.1:n.808+300C>T (ZDHHC24)
NM_001348571.1:c.*22-2389C>T (ZDHHC24)	NP_001335500.1:n.*22-2389C>T
XM_005273874.4:c.*22-2389C>T (ZDHHC24)	XP_005273931.1:n.*22-2389C>T
XR_001747823.2:n.862+300C>T (ZDHHC24)
XR_949860.3:n.933+300C>T (ZDHHC24)
NM_024649.5:c.1083G>A (BBS1) MANE Select	NP_078925.3:p.Lys361=
NM_001348571.2:c.*22-2389C>T (ZDHHC24)	NP_001335500.1:n.*22-2389C>T