Canonical Allele Identifier: CA6123471

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66521269G>C , CM000673.2:g.66521269G>C	GRCh38
NC_000011.9:g.66288740G>C , CM000673.1:g.66288740G>C	GRCh37
NC_000011.8:g.66045316G>C	NCBI36
NG_009093.1:g.15622G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.724-1G>C (BBS1) MANE Select	NP_078925.3:n.724-1G>C
ENST00000318312.12:c.724-1G>C (BBS1) MANE Select	ENSP00000317469.7:n.724-1G>C
NM_001348571.1:c.*219C>G (ZDHHC24)	NP_001335500.1:n.*219C>G
NM_001348571.2:c.*219C>G (ZDHHC24)	NP_001335500.1:n.*219C>G
NM_024649.4:c.724-1G>C (BBS1)	NP_078925.3:n.724-1G>C
ENST00000318312.11:c.724-1G>C (BBS1)	ENSP00000317469.7:n.724-1G>C
ENST00000393994.4:c.723+1521G>C (BBS1)	ENSP00000377563.2:n.723+1521G>C
ENST00000419755.3:c.835-1G>C	ENSP00000398526.3:n.835-1G>C
ENST00000455748.6:c.433-1G>C (BBS1)	ENSP00000405764.2:n.433-1G>C
ENST00000524458.5:c.*513-1G>C (BBS1)	ENSP00000436195.1:n.*513-1G>C
ENST00000525809.5:c.451-1G>C (BBS1)	ENSP00000431187.1:n.451-1G>C
ENST00000526035.5:c.*427-1G>C (BBS1)	ENSP00000434197.1:n.*427-1G>C
ENST00000526760.5:c.*431-1G>C (BBS1)	ENSP00000432140.1:n.*431-1G>C
ENST00000526986.5:c.*219C>G (ZDHHC24)	ENSP00000431321.1:n.*219C>G
ENST00000529766.5:n.731-1G>C (BBS1)
ENST00000529955.5:n.695-1G>C (BBS1)
ENST00000532283.1:n.557G>C (BBS1)
ENST00000532908.5:c.*384-1G>C (BBS1)	ENSP00000431866.1:n.*384-1G>C
ENST00000533430.5:n.502-1G>C (BBS1)
ENST00000533557.5:c.*384-1G>C (BBS1)	ENSP00000434619.1:n.*384-1G>C
ENST00000533644.5:c.*182-1G>C (BBS1)	ENSP00000436073.1:n.*182-1G>C
ENST00000534073.5:c.*341C>G (ZDHHC24)	ENSP00000436503.1:n.*341C>G
ENST00000630659.2:c.*431-1G>C (BBS1)	ENSP00000486455.1:n.*431-1G>C
XR_001747823.2:n.1060C>G (ZDHHC24)
XR_949860.3:n.1131C>G (ZDHHC24)