Canonical Allele Identifier: CA2619456618

Gene: GLI1

Linked Data

• gnomAD v4: 12-57466058-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57466058C>G , CM000674.2:g.57466058C>G	GRCh38
NC_000012.11:g.57859841C>G , CM000674.1:g.57859841C>G	GRCh37
NC_000012.10:g.56146108C>G	NCBI36
NG_029564.1:g.10924C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000228682.7:c.762+133C>G MANE Select	ENSP00000228682.2:n.762+133C>G
ENST00000228682.6:c.762+133C>G	ENSP00000228682.2:n.762+133C>G
ENST00000527742.1:n.593C>G
ENST00000528467.1:c.639+133C>G	ENSP00000434408.1:n.639+133C>G
ENST00000532291.5:c.378+133C>G	ENSP00000436671.1:n.378+133C>G
ENST00000543426.5:c.378+133C>G	ENSP00000437607.1:n.378+133C>G
ENST00000546141.5:c.639+133C>G	ENSP00000441006.1:n.639+133C>G
NM_001160045.1:c.378+133C>G	NP_001153517.1:n.378+133C>G
NM_001167609.1:c.639+133C>G	NP_001161081.1:n.639+133C>G
NM_005269.2:c.762+133C>G	NP_005260.1:n.762+133C>G
XM_005268799.2:c.378+133C>G	XP_005268856.1:n.378+133C>G
XM_011538189.1:c.762+133C>G	XP_011536491.1:n.762+133C>G
XM_011538190.1:c.762+133C>G	XP_011536492.1:n.762+133C>G
XM_011538189.2:c.762+133C>G	XP_011536491.1:n.762+133C>G
XM_011538190.2:c.762+133C>G	XP_011536492.1:n.762+133C>G
NM_005269.3:c.762+133C>G MANE Select	NP_005260.1:n.762+133C>G
NM_001160045.2:c.378+133C>G	NP_001153517.1:n.378+133C>G
NM_001167609.2:c.639+133C>G	NP_001161081.1:n.639+133C>G