Canonical Allele Identifier: CA381422771

Gene: BBS1 ZDHHC24

Linked Data

• COSMIC: COSM930775
• MyVariant Identifiers: chr11:g.66294216A>T (hg19) ; chr11:g.66526745A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526745A>T , CM000673.2:g.66526745A>T	GRCh38
NC_000011.9:g.66294216A>T , CM000673.1:g.66294216A>T	GRCh37
NC_000011.8:g.66050792A>T	NCBI36
NG_009093.1:g.21098A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1277A>T (BBS1) MANE Select	ENSP00000317469.7:p.Asn426Ile
ENST00000318312.11:c.1277A>T (BBS1)	ENSP00000317469.7:p.Asn426Ile
ENST00000393994.4:c.890A>T (BBS1)	ENSP00000377563.2:p.Asn297Ile
ENST00000419755.3:c.1388A>T	ENSP00000398526.3:p.Asn463Ile
ENST00000455748.6:c.986A>T (BBS1)	ENSP00000405764.2:p.Asn329Ile
ENST00000526760.5:c.*984A>T (BBS1)	ENSP00000432140.1:n.*984A>T
ENST00000526986.5:c.*21+191T>A (ZDHHC24)	ENSP00000431321.1:n.*21+191T>A
ENST00000527959.1:n.421A>T (BBS1)
ENST00000529766.5:n.1284A>T (BBS1)
ENST00000529955.5:n.1248A>T (BBS1)
ENST00000534073.5:c.*21+191T>A (ZDHHC24)	ENSP00000436503.1:n.*21+191T>A
ENST00000630659.2:c.*984A>T (BBS1)	ENSP00000486455.1:n.*984A>T
NM_024649.4:c.1277A>T (BBS1)	NP_078925.3:p.Asn426Ile
XM_005273874.3:c.*21+191T>A (ZDHHC24)	XP_005273931.1:n.*21+191T>A
XM_011544894.1:c.*21+191T>A (ZDHHC24)	XP_011543196.1:n.*21+191T>A
XM_011544895.1:c.560-2469T>A (ZDHHC24)	XP_011543197.1:n.560-2469T>A
XR_949860.1:n.686+191T>A (ZDHHC24)
NM_001348571.1:c.*21+191T>A (ZDHHC24)	NP_001335500.1:n.*21+191T>A
XM_005273874.4:c.*21+191T>A (ZDHHC24)	XP_005273931.1:n.*21+191T>A
XM_011544894.2:c.*21+191T>A (ZDHHC24)	XP_011543196.1:n.*21+191T>A
XR_001747823.2:n.741-2469T>A (ZDHHC24)
XR_949860.3:n.811+191T>A (ZDHHC24)
NM_024649.5:c.1277A>T (BBS1) MANE Select	NP_078925.3:p.Asn426Ile
NM_001348571.2:c.*21+191T>A (ZDHHC24)	NP_001335500.1:n.*21+191T>A