Canonical Allele Identifier: CA381425083

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66530918A>T , CM000673.2:g.66530918A>T	GRCh38
NC_000011.9:g.66298389A>T , CM000673.1:g.66298389A>T	GRCh37
NC_000011.8:g.66054965A>T	NCBI36
NG_009093.1:g.25271A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.1498A>T (BBS1) MANE Select	NP_078925.3:p.Lys500Ter
ENST00000318312.12:c.1498A>T (BBS1) MANE Select	ENSP00000317469.7:p.Lys500Ter
NM_001348571.1:c.560-1430T>A (ZDHHC24)	NP_001335500.1:n.560-1430T>A
NM_001348571.2:c.560-1430T>A (ZDHHC24)	NP_001335500.1:n.560-1430T>A
NM_024649.4:c.1498A>T (BBS1)	NP_078925.3:p.Lys500Ter
ENST00000318312.11:c.1498A>T (BBS1)	ENSP00000317469.7:p.Lys500Ter
ENST00000393994.4:c.1111A>T (BBS1)	ENSP00000377563.2:p.Lys371Ter
ENST00000419755.3:c.1609A>T	ENSP00000398526.3:p.Lys537Ter
ENST00000455748.6:c.1207A>T (BBS1)	ENSP00000405764.2:p.Lys403Ter
ENST00000526760.5:c.*1205A>T (BBS1)	ENSP00000432140.1:n.*1205A>T
ENST00000526986.5:c.560-1430T>A (ZDHHC24)	ENSP00000431321.1:n.560-1430T>A
ENST00000529955.5:n.1469A>T (BBS1)
ENST00000534073.5:c.560-3912T>A (ZDHHC24)	ENSP00000436503.1:n.560-3912T>A
ENST00000630659.2:c.*1205A>T (BBS1)	ENSP00000486455.1:n.*1205A>T
XM_005273874.3:c.560-3912T>A (ZDHHC24)	XP_005273931.1:n.560-3912T>A
XM_005273874.4:c.560-3912T>A (ZDHHC24)	XP_005273931.1:n.560-3912T>A
XM_011544891.1:c.560-1430T>A (ZDHHC24)	XP_011543193.1:n.560-1430T>A
XM_011544894.1:c.560-3912T>A (ZDHHC24)	XP_011543196.1:n.560-3912T>A
XM_011544894.2:c.560-3912T>A (ZDHHC24)	XP_011543196.1:n.560-3912T>A
XM_011544895.1:c.560-6642T>A (ZDHHC24)	XP_011543197.1:n.560-6642T>A
XR_001747823.2:n.741-6642T>A (ZDHHC24)
XR_949860.1:n.616-3912T>A (ZDHHC24)
XR_949860.3:n.741-3912T>A (ZDHHC24)