Canonical Allele Identifier: CA237785330

Gene: GLI1

Linked Data

• dbSNP Id: rs41292009
• gnomAD v2: 12-57859880-T-C
• gnomAD v3: 12-57466097-T-C
• gnomAD v4: 12-57466097-T-C
• MyVariant Identifiers: chr12:g.57859880T>C (hg19) ; chr12:g.57466097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57466097T>C , CM000674.2:g.57466097T>C	GRCh38
NC_000012.11:g.57859880T>C , CM000674.1:g.57859880T>C	GRCh37
NC_000012.10:g.56146147T>C	NCBI36
NG_029564.1:g.10963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228682.7:c.763-143T>C MANE Select	ENSP00000228682.2:n.763-143T>C
ENST00000228682.6:c.763-143T>C	ENSP00000228682.2:n.763-143T>C
ENST00000527742.1:n.632T>C
ENST00000528467.1:c.640-143T>C	ENSP00000434408.1:n.640-143T>C
ENST00000532291.5:c.379-143T>C	ENSP00000436671.1:n.379-143T>C
ENST00000543426.5:c.379-143T>C	ENSP00000437607.1:n.379-143T>C
ENST00000546141.5:c.640-143T>C	ENSP00000441006.1:n.640-143T>C
NM_001160045.1:c.379-143T>C	NP_001153517.1:n.379-143T>C
NM_001167609.1:c.640-143T>C	NP_001161081.1:n.640-143T>C
NM_005269.2:c.763-143T>C	NP_005260.1:n.763-143T>C
XM_005268799.2:c.379-143T>C	XP_005268856.1:n.379-143T>C
XM_011538189.1:c.763-143T>C	XP_011536491.1:n.763-143T>C
XM_011538190.1:c.763-143T>C	XP_011536492.1:n.763-143T>C
XM_011538189.2:c.763-143T>C	XP_011536491.1:n.763-143T>C
XM_011538190.2:c.763-143T>C	XP_011536492.1:n.763-143T>C
NM_005269.3:c.763-143T>C MANE Select	NP_005260.1:n.763-143T>C
NM_001160045.2:c.379-143T>C	NP_001153517.1:n.379-143T>C
NM_001167609.2:c.640-143T>C	NP_001161081.1:n.640-143T>C