Canonical Allele Identifier: CA381461133

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523465G>T , CM000673.2:g.66523465G>T	GRCh38
NC_000011.9:g.66290936G>T , CM000673.1:g.66290936G>T	GRCh37
NC_000011.8:g.66047512G>T	NCBI36
NG_009093.1:g.17818G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.840G>T (BBS1) MANE Select	NP_078925.3:p.Lys280Asn
ENST00000318312.12:c.840G>T (BBS1) MANE Select	ENSP00000317469.7:p.Lys280Asn
NM_001348571.1:c.*22-1999C>A (ZDHHC24)	NP_001335500.1:n.*22-1999C>A
NM_001348571.2:c.*22-1999C>A (ZDHHC24)	NP_001335500.1:n.*22-1999C>A
NM_024649.4:c.840G>T (BBS1)	NP_078925.3:p.Lys280Asn
ENST00000318312.11:c.840G>T (BBS1)	ENSP00000317469.7:p.Lys280Asn
ENST00000393994.4:c.724-2658G>T (BBS1)	ENSP00000377563.2:n.724-2658G>T
ENST00000419755.3:c.951G>T	ENSP00000398526.3:p.Lys317Asn
ENST00000455748.6:c.549G>T (BBS1)	ENSP00000405764.2:p.Lys183Asn
ENST00000524458.5:c.*629G>T (BBS1)	ENSP00000436195.1:n.*629G>T
ENST00000524884.1:n.525G>T (BBS1)
ENST00000525809.5:c.567G>T (BBS1)	ENSP00000431187.1:p.Lys189Asn
ENST00000526035.5:c.*543G>T (BBS1)	ENSP00000434197.1:n.*543G>T
ENST00000526760.5:c.*547G>T (BBS1)	ENSP00000432140.1:n.*547G>T
ENST00000526986.5:c.*22-1999C>A (ZDHHC24)	ENSP00000431321.1:n.*22-1999C>A
ENST00000529766.5:n.847G>T (BBS1)
ENST00000529895.1:n.289G>T (BBS1)
ENST00000529955.5:n.811G>T (BBS1)
ENST00000532908.5:c.*500G>T (BBS1)	ENSP00000431866.1:n.*500G>T
ENST00000533557.5:c.*694G>T (BBS1)	ENSP00000434619.1:n.*694G>T
ENST00000533644.5:c.*298G>T (BBS1)	ENSP00000436073.1:n.*298G>T
ENST00000534073.5:c.*143+690C>A (ZDHHC24)	ENSP00000436503.1:n.*143+690C>A
ENST00000630659.2:c.*547G>T (BBS1)	ENSP00000486455.1:n.*547G>T
XM_005273874.3:c.*22-1999C>A (ZDHHC24)	XP_005273931.1:n.*22-1999C>A
XM_005273874.4:c.*22-1999C>A (ZDHHC24)	XP_005273931.1:n.*22-1999C>A
XR_001747823.2:n.862+690C>A (ZDHHC24)
XR_949860.1:n.808+690C>A (ZDHHC24)
XR_949860.3:n.933+690C>A (ZDHHC24)