Canonical Allele Identifier: CA381422625

Gene: BBS1 ZDHHC24

Linked Data

• MyVariant Identifiers: chr11:g.66294179G>A (hg19) ; chr11:g.66526708G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526708G>A , CM000673.2:g.66526708G>A	GRCh38
NC_000011.9:g.66294179G>A , CM000673.1:g.66294179G>A	GRCh37
NC_000011.8:g.66050755G>A	NCBI36
NG_009093.1:g.21061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1240G>A (BBS1) MANE Select	ENSP00000317469.7:p.Glu414Lys
ENST00000318312.11:c.1240G>A (BBS1)	ENSP00000317469.7:p.Glu414Lys
ENST00000393994.4:c.853G>A (BBS1)	ENSP00000377563.2:p.Glu285Lys
ENST00000419755.3:c.1351G>A	ENSP00000398526.3:p.Glu451Lys
ENST00000455748.6:c.949G>A (BBS1)	ENSP00000405764.2:p.Glu317Lys
ENST00000526760.5:c.*947G>A (BBS1)	ENSP00000432140.1:n.*947G>A
ENST00000526986.5:c.*21+228C>T (ZDHHC24)	ENSP00000431321.1:n.*21+228C>T
ENST00000527959.1:n.384G>A (BBS1)
ENST00000529766.5:n.1247G>A (BBS1)
ENST00000529955.5:n.1211G>A (BBS1)
ENST00000534073.5:c.*21+228C>T (ZDHHC24)	ENSP00000436503.1:n.*21+228C>T
ENST00000630659.2:c.*947G>A (BBS1)	ENSP00000486455.1:n.*947G>A
NM_024649.4:c.1240G>A (BBS1)	NP_078925.3:p.Glu414Lys
XM_005273874.3:c.*21+228C>T (ZDHHC24)	XP_005273931.1:n.*21+228C>T
XM_011544894.1:c.*21+228C>T (ZDHHC24)	XP_011543196.1:n.*21+228C>T
XM_011544895.1:c.560-2432C>T (ZDHHC24)	XP_011543197.1:n.560-2432C>T
XR_949860.1:n.686+228C>T (ZDHHC24)
NM_001348571.1:c.*21+228C>T (ZDHHC24)	NP_001335500.1:n.*21+228C>T
XM_005273874.4:c.*21+228C>T (ZDHHC24)	XP_005273931.1:n.*21+228C>T
XM_011544894.2:c.*21+228C>T (ZDHHC24)	XP_011543196.1:n.*21+228C>T
XR_001747823.2:n.741-2432C>T (ZDHHC24)
XR_949860.3:n.811+228C>T (ZDHHC24)
NM_024649.5:c.1240G>A (BBS1) MANE Select	NP_078925.3:p.Glu414Lys
NM_001348571.2:c.*21+228C>T (ZDHHC24)	NP_001335500.1:n.*21+228C>T