Canonical Allele Identifier: CA6123834

Gene: BBS1 ZDHHC24

Linked Data

• dbSNP Id: rs755080922
• ExAC: 11:66299088 C / T
• gnomAD v2: 11-66299088-C-T
• gnomAD v3: 11-66531617-C-T
• gnomAD v4: 11-66531617-C-T
• MyVariant Identifiers: chr11:g.66299088C>T (hg19) ; chr11:g.66531617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531617C>T , CM000673.2:g.66531617C>T	GRCh38
NC_000011.9:g.66299088C>T , CM000673.1:g.66299088C>T	GRCh37
NC_000011.8:g.66055664C>T	NCBI36
NG_009093.1:g.25970C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1609-39C>T (BBS1) MANE Select	ENSP00000317469.7:n.1609-39C>T
ENST00000318312.11:c.1609-39C>T (BBS1)	ENSP00000317469.7:n.1609-39C>T
ENST00000393994.4:c.1222-39C>T (BBS1)	ENSP00000377563.2:n.1222-39C>T
ENST00000419755.3:c.1720-39C>T	ENSP00000398526.3:n.1720-39C>T
ENST00000455748.6:c.1318-39C>T (BBS1)	ENSP00000405764.2:n.1318-39C>T
ENST00000526760.5:c.*1316-39C>T (BBS1)	ENSP00000432140.1:n.*1316-39C>T
ENST00000526986.5:c.560-2129G>A (ZDHHC24)	ENSP00000431321.1:n.560-2129G>A
ENST00000529955.5:n.1580-39C>T (BBS1)
ENST00000534073.5:c.560-4611G>A (ZDHHC24)	ENSP00000436503.1:n.560-4611G>A
ENST00000630659.2:c.*1316-39C>T (BBS1)	ENSP00000486455.1:n.*1316-39C>T
NM_024649.4:c.1609-39C>T (BBS1)	NP_078925.3:n.1609-39C>T
XM_005273874.3:c.560-4611G>A (ZDHHC24)	XP_005273931.1:n.560-4611G>A
XM_011544891.1:c.560-2129G>A (ZDHHC24)	XP_011543193.1:n.560-2129G>A
XM_011544894.1:c.560-4611G>A (ZDHHC24)	XP_011543196.1:n.560-4611G>A
XM_011544895.1:c.560-7341G>A (ZDHHC24)	XP_011543197.1:n.560-7341G>A
XR_949860.1:n.616-4611G>A (ZDHHC24)
NM_001348571.1:c.560-2129G>A (ZDHHC24)	NP_001335500.1:n.560-2129G>A
XM_005273874.4:c.560-4611G>A (ZDHHC24)	XP_005273931.1:n.560-4611G>A
XM_011544894.2:c.560-4611G>A (ZDHHC24)	XP_011543196.1:n.560-4611G>A
XR_001747823.2:n.741-7341G>A (ZDHHC24)
XR_949860.3:n.741-4611G>A (ZDHHC24)
NM_024649.5:c.1609-39C>T (BBS1) MANE Select	NP_078925.3:n.1609-39C>T
NM_001348571.2:c.560-2129G>A (ZDHHC24)	NP_001335500.1:n.560-2129G>A