Canonical Allele Identifier: CA2739270568

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2850479
• ClinVar RCV Id: RCV003635275

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531642G>T , CM000673.2:g.66531642G>T	GRCh38
NC_000011.9:g.66299113G>T , CM000673.1:g.66299113G>T	GRCh37
NC_000011.8:g.66055689G>T	NCBI36
NG_009093.1:g.25995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1609-14G>T (BBS1) MANE Select	ENSP00000317469.7:n.1609-14G>T
ENST00000318312.11:c.1609-14G>T (BBS1)	ENSP00000317469.7:n.1609-14G>T
ENST00000393994.4:c.1222-14G>T (BBS1)	ENSP00000377563.2:n.1222-14G>T
ENST00000419755.3:c.1720-14G>T	ENSP00000398526.3:n.1720-14G>T
ENST00000455748.6:c.1318-14G>T (BBS1)	ENSP00000405764.2:n.1318-14G>T
ENST00000526760.5:c.*1316-14G>T (BBS1)	ENSP00000432140.1:n.*1316-14G>T
ENST00000526986.5:c.560-2154C>A (ZDHHC24)	ENSP00000431321.1:n.560-2154C>A
ENST00000529955.5:n.1580-14G>T (BBS1)
ENST00000534073.5:c.560-4636C>A (ZDHHC24)	ENSP00000436503.1:n.560-4636C>A
ENST00000630659.2:c.*1316-14G>T (BBS1)	ENSP00000486455.1:n.*1316-14G>T
NM_024649.4:c.1609-14G>T (BBS1)	NP_078925.3:n.1609-14G>T
XM_005273874.3:c.560-4636C>A (ZDHHC24)	XP_005273931.1:n.560-4636C>A
XM_011544891.1:c.560-2154C>A (ZDHHC24)	XP_011543193.1:n.560-2154C>A
XM_011544894.1:c.560-4636C>A (ZDHHC24)	XP_011543196.1:n.560-4636C>A
XM_011544895.1:c.560-7366C>A (ZDHHC24)	XP_011543197.1:n.560-7366C>A
XR_949860.1:n.616-4636C>A (ZDHHC24)
NM_001348571.1:c.560-2154C>A (ZDHHC24)	NP_001335500.1:n.560-2154C>A
XM_005273874.4:c.560-4636C>A (ZDHHC24)	XP_005273931.1:n.560-4636C>A
XM_011544894.2:c.560-4636C>A (ZDHHC24)	XP_011543196.1:n.560-4636C>A
XR_001747823.2:n.741-7366C>A (ZDHHC24)
XR_949860.3:n.741-4636C>A (ZDHHC24)
NM_024649.5:c.1609-14G>T (BBS1) MANE Select	NP_078925.3:n.1609-14G>T
NM_001348571.2:c.560-2154C>A (ZDHHC24)	NP_001335500.1:n.560-2154C>A