Canonical Allele Identifier: CA224077368

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66524211C>T , CM000673.2:g.66524211C>T	GRCh38
NC_000011.9:g.66291682C>T , CM000673.1:g.66291682C>T	GRCh37
NC_000011.8:g.66048258C>T	NCBI36
NG_009093.1:g.18564C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.1110+329C>T (BBS1) MANE Select	NP_078925.3:n.1110+329C>T
ENST00000318312.12:c.1110+329C>T (BBS1) MANE Select	ENSP00000317469.7:n.1110+329C>T
NM_001348571.1:c.*21+2725G>A (ZDHHC24)	NP_001335500.1:n.*21+2725G>A
NM_001348571.2:c.*21+2725G>A (ZDHHC24)	NP_001335500.1:n.*21+2725G>A
NM_024649.4:c.1110+329C>T (BBS1)	NP_078925.3:n.1110+329C>T
ENST00000318312.11:c.1110+329C>T (BBS1)	ENSP00000317469.7:n.1110+329C>T
ENST00000393994.4:c.724-1912C>T (BBS1)	ENSP00000377563.2:n.724-1912C>T
ENST00000419755.3:c.1221+329C>T	ENSP00000398526.3:n.1221+329C>T
ENST00000455748.6:c.819+329C>T (BBS1)	ENSP00000405764.2:n.819+329C>T
ENST00000526760.5:c.*817+329C>T (BBS1)	ENSP00000432140.1:n.*817+329C>T
ENST00000526986.5:c.*21+2725G>A (ZDHHC24)	ENSP00000431321.1:n.*21+2725G>A
ENST00000527959.1:n.254+329C>T (BBS1)
ENST00000529766.5:n.1117+329C>T (BBS1)
ENST00000529955.5:n.1081+329C>T (BBS1)
ENST00000534073.5:c.*87G>A (ZDHHC24)	ENSP00000436503.1:n.*87G>A
ENST00000630659.2:c.*817+329C>T (BBS1)	ENSP00000486455.1:n.*817+329C>T
XM_005273874.3:c.*21+2725G>A (ZDHHC24)	XP_005273931.1:n.*21+2725G>A
XM_005273874.4:c.*21+2725G>A (ZDHHC24)	XP_005273931.1:n.*21+2725G>A
XR_001747823.2:n.806G>A (ZDHHC24)
XR_949860.1:n.752G>A (ZDHHC24)
XR_949860.3:n.877G>A (ZDHHC24)