Canonical Allele Identifier: CA6123766

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 531828
• ClinVar RCV Id: RCV000638361 ; RCV001829791 ; RCV002529878
• dbSNP Id: rs374706769
• ExAC: 11:66297389 C / A
• gnomAD v2: 11-66297389-C-A
• gnomAD v3: 11-66529918-C-A
• gnomAD v4: 11-66529918-C-A
• MyVariant Identifiers: chr11:g.66297389C>A (hg19) ; chr11:g.66529918C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66529918C>A , CM000673.2:g.66529918C>A	GRCh38
NC_000011.9:g.66297389C>A , CM000673.1:g.66297389C>A	GRCh37
NC_000011.8:g.66053965C>A	NCBI36
NG_009093.1:g.24271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1439C>A (BBS1) MANE Select	ENSP00000317469.7:p.Thr480Lys
ENST00000318312.11:c.1439C>A (BBS1)	ENSP00000317469.7:p.Thr480Lys
ENST00000393994.4:c.1052C>A (BBS1)	ENSP00000377563.2:p.Thr351Lys
ENST00000419755.3:c.1550C>A	ENSP00000398526.3:p.Thr517Lys
ENST00000455748.6:c.1148C>A (BBS1)	ENSP00000405764.2:p.Thr383Lys
ENST00000526760.5:c.*1146C>A (BBS1)	ENSP00000432140.1:n.*1146C>A
ENST00000526986.5:c.560-430G>T (ZDHHC24)	ENSP00000431321.1:n.560-430G>T
ENST00000529955.5:n.1410C>A (BBS1)
ENST00000534073.5:c.560-2912G>T (ZDHHC24)	ENSP00000436503.1:n.560-2912G>T
ENST00000630659.2:c.*1146C>A (BBS1)	ENSP00000486455.1:n.*1146C>A
NM_024649.4:c.1439C>A (BBS1)	NP_078925.3:p.Thr480Lys
XM_005273874.3:c.560-2912G>T (ZDHHC24)	XP_005273931.1:n.560-2912G>T
XM_011544891.1:c.560-430G>T (ZDHHC24)	XP_011543193.1:n.560-430G>T
XM_011544894.1:c.560-2912G>T (ZDHHC24)	XP_011543196.1:n.560-2912G>T
XM_011544895.1:c.560-5642G>T (ZDHHC24)	XP_011543197.1:n.560-5642G>T
XR_949860.1:n.616-2912G>T (ZDHHC24)
NM_001348571.1:c.560-430G>T (ZDHHC24)	NP_001335500.1:n.560-430G>T
XM_005273874.4:c.560-2912G>T (ZDHHC24)	XP_005273931.1:n.560-2912G>T
XM_011544894.2:c.560-2912G>T (ZDHHC24)	XP_011543196.1:n.560-2912G>T
XR_001747823.2:n.741-5642G>T (ZDHHC24)
XR_949860.3:n.741-2912G>T (ZDHHC24)
NM_024649.5:c.1439C>A (BBS1) MANE Select	NP_078925.3:p.Thr480Lys
NM_001348571.2:c.560-430G>T (ZDHHC24)	NP_001335500.1:n.560-430G>T