Canonical Allele Identifier: CA6123538

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523492C>T , CM000673.2:g.66523492C>T	GRCh38
NC_000011.9:g.66290963C>T , CM000673.1:g.66290963C>T	GRCh37
NC_000011.8:g.66047539C>T	NCBI36
NG_009093.1:g.17845C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.867C>T (BBS1) MANE Select	NP_078925.3:p.Ser289=
ENST00000318312.12:c.867C>T (BBS1) MANE Select	ENSP00000317469.7:p.Ser289=
NM_001348571.1:c.*22-2026G>A (ZDHHC24)	NP_001335500.1:n.*22-2026G>A
NM_001348571.2:c.*22-2026G>A (ZDHHC24)	NP_001335500.1:n.*22-2026G>A
NM_024649.4:c.867C>T (BBS1)	NP_078925.3:p.Ser289=
ENST00000318312.11:c.867C>T (BBS1)	ENSP00000317469.7:p.Ser289=
ENST00000393994.4:c.724-2631C>T (BBS1)	ENSP00000377563.2:n.724-2631C>T
ENST00000419755.3:c.978C>T	ENSP00000398526.3:p.Ser326=
ENST00000455748.6:c.576C>T (BBS1)	ENSP00000405764.2:p.Ser192=
ENST00000524458.5:c.*656C>T (BBS1)	ENSP00000436195.1:n.*656C>T
ENST00000524884.1:n.552C>T (BBS1)
ENST00000526760.5:c.*574C>T (BBS1)	ENSP00000432140.1:n.*574C>T
ENST00000526986.5:c.*22-2026G>A (ZDHHC24)	ENSP00000431321.1:n.*22-2026G>A
ENST00000527959.1:n.11C>T (BBS1)
ENST00000529766.5:n.874C>T (BBS1)
ENST00000529895.1:n.316C>T (BBS1)
ENST00000529955.5:n.838C>T (BBS1)
ENST00000532908.5:c.*527C>T (BBS1)	ENSP00000431866.1:n.*527C>T
ENST00000533557.5:c.*721C>T (BBS1)	ENSP00000434619.1:n.*721C>T
ENST00000533644.5:c.*325C>T (BBS1)	ENSP00000436073.1:n.*325C>T
ENST00000534073.5:c.*143+663G>A (ZDHHC24)	ENSP00000436503.1:n.*143+663G>A
ENST00000630659.2:c.*574C>T (BBS1)	ENSP00000486455.1:n.*574C>T
XM_005273874.3:c.*22-2026G>A (ZDHHC24)	XP_005273931.1:n.*22-2026G>A
XM_005273874.4:c.*22-2026G>A (ZDHHC24)	XP_005273931.1:n.*22-2026G>A
XR_001747823.2:n.862+663G>A (ZDHHC24)
XR_949860.1:n.808+663G>A (ZDHHC24)
XR_949860.3:n.933+663G>A (ZDHHC24)