Canonical Allele Identifier: CA2842944045

Gene: GLI1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57465978G>T , CM000674.2:g.57465978G>T	GRCh38
NC_000012.11:g.57859761G>T , CM000674.1:g.57859761G>T	GRCh37
NC_000012.10:g.56146028G>T	NCBI36
NG_029564.1:g.10844G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228682.7:c.762+53G>T MANE Select	ENSP00000228682.2:n.762+53G>T
ENST00000228682.6:c.762+53G>T	ENSP00000228682.2:n.762+53G>T
ENST00000527742.1:n.513G>T
ENST00000528467.1:c.639+53G>T	ENSP00000434408.1:n.639+53G>T
ENST00000532291.5:c.378+53G>T	ENSP00000436671.1:n.378+53G>T
ENST00000543426.5:c.378+53G>T	ENSP00000437607.1:n.378+53G>T
ENST00000546141.5:c.639+53G>T	ENSP00000441006.1:n.639+53G>T
NM_001160045.1:c.378+53G>T	NP_001153517.1:n.378+53G>T
NM_001167609.1:c.639+53G>T	NP_001161081.1:n.639+53G>T
NM_005269.2:c.762+53G>T	NP_005260.1:n.762+53G>T
XM_005268799.2:c.378+53G>T	XP_005268856.1:n.378+53G>T
XM_011538189.1:c.762+53G>T	XP_011536491.1:n.762+53G>T
XM_011538190.1:c.762+53G>T	XP_011536492.1:n.762+53G>T
XM_011538189.2:c.762+53G>T	XP_011536491.1:n.762+53G>T
XM_011538190.2:c.762+53G>T	XP_011536492.1:n.762+53G>T
NM_005269.3:c.762+53G>T MANE Select	NP_005260.1:n.762+53G>T
NM_001160045.2:c.378+53G>T	NP_001153517.1:n.378+53G>T
NM_001167609.2:c.639+53G>T	NP_001161081.1:n.639+53G>T