Canonical Allele Identifier: CA381462287

Gene: BBS1 ZDHHC24

Linked Data

• MyVariant Identifiers: chr11:g.66291256A>G (hg19) ; chr11:g.66523785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523785A>G , CM000673.2:g.66523785A>G	GRCh38
NC_000011.9:g.66291256A>G , CM000673.1:g.66291256A>G	GRCh37
NC_000011.8:g.66047832A>G	NCBI36
NG_009093.1:g.18138A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1013A>G (BBS1) MANE Select	ENSP00000317469.7:p.Gln338Arg
ENST00000318312.11:c.1013A>G (BBS1)	ENSP00000317469.7:p.Gln338Arg
ENST00000393994.4:c.724-2338A>G (BBS1)	ENSP00000377563.2:n.724-2338A>G
ENST00000419755.3:c.1124A>G	ENSP00000398526.3:p.Gln375Arg
ENST00000455748.6:c.722A>G (BBS1)	ENSP00000405764.2:p.Gln241Arg
ENST00000526760.5:c.*720A>G (BBS1)	ENSP00000432140.1:n.*720A>G
ENST00000526986.5:c.*22-2319T>C (ZDHHC24)	ENSP00000431321.1:n.*22-2319T>C
ENST00000527959.1:n.157A>G (BBS1)
ENST00000529766.5:n.1020A>G (BBS1)
ENST00000529895.1:n.462A>G (BBS1)
ENST00000529955.5:n.984A>G (BBS1)
ENST00000532908.5:c.*673A>G (BBS1)	ENSP00000431866.1:n.*673A>G
ENST00000534073.5:c.*143+370T>C (ZDHHC24)	ENSP00000436503.1:n.*143+370T>C
ENST00000630659.2:c.*720A>G (BBS1)	ENSP00000486455.1:n.*720A>G
NM_024649.4:c.1013A>G (BBS1)	NP_078925.3:p.Gln338Arg
XM_005273874.3:c.*22-2319T>C (ZDHHC24)	XP_005273931.1:n.*22-2319T>C
XR_949860.1:n.808+370T>C (ZDHHC24)
NM_001348571.1:c.*22-2319T>C (ZDHHC24)	NP_001335500.1:n.*22-2319T>C
XM_005273874.4:c.*22-2319T>C (ZDHHC24)	XP_005273931.1:n.*22-2319T>C
XR_001747823.2:n.862+370T>C (ZDHHC24)
XR_949860.3:n.933+370T>C (ZDHHC24)
NM_024649.5:c.1013A>G (BBS1) MANE Select	NP_078925.3:p.Gln338Arg
NM_001348571.2:c.*22-2319T>C (ZDHHC24)	NP_001335500.1:n.*22-2319T>C