Canonical Allele Identifier: CA2842944052
Gene: GLI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57466114T>C , CM000674.2:g.57466114T>C GRCh38
NC_000012.11:g.57859897T>C , CM000674.1:g.57859897T>C GRCh37
NC_000012.10:g.56146164T>C NCBI36
NG_029564.1:g.10980T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228682.7:c.763-126T>C MANE Select ENSP00000228682.2:n.763-126T>C
ENST00000228682.6:c.763-126T>C ENSP00000228682.2:n.763-126T>C
ENST00000527742.1:n.649T>C
ENST00000528467.1:c.640-126T>C ENSP00000434408.1:n.640-126T>C
ENST00000532291.5:c.379-126T>C ENSP00000436671.1:n.379-126T>C
ENST00000543426.5:c.379-126T>C ENSP00000437607.1:n.379-126T>C
ENST00000546141.5:c.640-126T>C ENSP00000441006.1:n.640-126T>C
NM_001160045.1:c.379-126T>C NP_001153517.1:n.379-126T>C
NM_001167609.1:c.640-126T>C NP_001161081.1:n.640-126T>C
NM_005269.2:c.763-126T>C NP_005260.1:n.763-126T>C
XM_005268799.2:c.379-126T>C XP_005268856.1:n.379-126T>C
XM_011538189.1:c.763-126T>C XP_011536491.1:n.763-126T>C
XM_011538190.1:c.763-126T>C XP_011536492.1:n.763-126T>C
XM_011538189.2:c.763-126T>C XP_011536491.1:n.763-126T>C
XM_011538190.2:c.763-126T>C XP_011536492.1:n.763-126T>C
NM_005269.3:c.763-126T>C MANE Select NP_005260.1:n.763-126T>C
NM_001160045.2:c.379-126T>C NP_001153517.1:n.379-126T>C
NM_001167609.2:c.640-126T>C NP_001161081.1:n.640-126T>C