Canonical Allele Identifier: CA381422136

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526135A>C , CM000673.2:g.66526135A>C	GRCh38
NC_000011.9:g.66293606A>C , CM000673.1:g.66293606A>C	GRCh37
NC_000011.8:g.66050182A>C	NCBI36
NG_009093.1:g.20488A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.1123A>C (BBS1) MANE Select	NP_078925.3:p.Ser375Arg
ENST00000318312.12:c.1123A>C (BBS1) MANE Select	ENSP00000317469.7:p.Ser375Arg
NM_001348571.1:c.*21+801T>G (ZDHHC24)	NP_001335500.1:n.*21+801T>G
NM_001348571.2:c.*21+801T>G (ZDHHC24)	NP_001335500.1:n.*21+801T>G
NM_024649.4:c.1123A>C (BBS1)	NP_078925.3:p.Ser375Arg
ENST00000318312.11:c.1123A>C (BBS1)	ENSP00000317469.7:p.Ser375Arg
ENST00000393994.4:c.736A>C (BBS1)	ENSP00000377563.2:p.Ser246Arg
ENST00000419755.3:c.1234A>C	ENSP00000398526.3:p.Ser412Arg
ENST00000455748.6:c.832A>C (BBS1)	ENSP00000405764.2:p.Ser278Arg
ENST00000526760.5:c.*830A>C (BBS1)	ENSP00000432140.1:n.*830A>C
ENST00000526986.5:c.*21+801T>G (ZDHHC24)	ENSP00000431321.1:n.*21+801T>G
ENST00000527959.1:n.267A>C (BBS1)
ENST00000529766.5:n.1130A>C (BBS1)
ENST00000529955.5:n.1094A>C (BBS1)
ENST00000534073.5:c.*21+801T>G (ZDHHC24)	ENSP00000436503.1:n.*21+801T>G
ENST00000630659.2:c.*830A>C (BBS1)	ENSP00000486455.1:n.*830A>C
XM_005273874.3:c.*21+801T>G (ZDHHC24)	XP_005273931.1:n.*21+801T>G
XM_005273874.4:c.*21+801T>G (ZDHHC24)	XP_005273931.1:n.*21+801T>G
XM_011544894.1:c.*22-575T>G (ZDHHC24)	XP_011543196.1:n.*22-575T>G
XM_011544894.2:c.*22-575T>G (ZDHHC24)	XP_011543196.1:n.*22-575T>G
XM_011544895.1:c.560-1859T>G (ZDHHC24)	XP_011543197.1:n.560-1859T>G
XR_001747823.2:n.741-1859T>G (ZDHHC24)
XR_949860.1:n.686+801T>G (ZDHHC24)
XR_949860.3:n.811+801T>G (ZDHHC24)