Canonical Allele Identifier: CA390879534

Gene: DICER1

Linked Data

• ClinVar Variation Id: 2770206
• ClinVar RCV Id: RCV003591033
• gnomAD v4: 14-95107668-G-C
• MyVariant Identifiers: chr14:g.95574005G>C (hg19) ; chr14:g.95107668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95107668G>C , CM000676.2:g.95107668G>C	GRCh38
NC_000014.8:g.95574005G>C , CM000676.1:g.95574005G>C	GRCh37
NC_000014.7:g.94643758G>C	NCBI36
NG_016311.1:g.54755C>G , LRG_492:g.54755C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529720.2:c.2744C>G	ENSP00000433926.2:p.Thr915Arg
ENST00000531162.7:c.2744C>G	ENSP00000433060.3:p.Thr915Arg
ENST00000674628.2:c.2744C>G	ENSP00000502730.2:p.Thr915Arg
ENST00000675540.2:c.2744C>G	ENSP00000501988.2:p.Thr915Arg
ENST00000696733.1:c.2744C>G	ENSP00000512838.1:p.Thr915Arg
ENST00000696734.1:c.2744C>G	ENSP00000512839.1:p.Thr915Arg
ENST00000696736.1:c.2744C>G	ENSP00000512840.1:p.Thr915Arg
ENST00000696737.1:c.2744C>G	ENSP00000512841.1:p.Thr915Arg
ENST00000696738.1:n.632C>G
ENST00000696920.1:n.3007C>G
ENST00000696921.1:n.3850C>G
ENST00000696922.1:n.3153C>G
ENST00000696923.1:c.2744C>G	ENSP00000512976.1:p.Thr915Arg
ENST00000696924.1:c.2744C>G	ENSP00000512977.1:p.Thr915Arg
ENST00000696925.1:n.3153C>G
ENST00000343455.8:c.2744C>G MANE Select	ENSP00000343745.3:p.Thr915Arg
ENST00000393063.6:c.2744C>G	ENSP00000376783.1:p.Thr915Arg
ENST00000526495.6:c.2744C>G	ENSP00000437256.1:p.Thr915Arg
ENST00000532939.3:c.2744C>G	ENSP00000452556.2:p.Thr915Arg
ENST00000556045.6:c.2744C>G	ENSP00000451041.2:p.Thr915Arg
ENST00000675540.1:c.566C>G	ENSP00000501988.1:p.Thr189Arg
ENST00000675995.1:c.*1060C>G	ENSP00000502591.1:n.*1060C>G
ENST00000343455.7:c.2744C>G	ENSP00000343745.3:p.Thr915Arg
ENST00000393063.5:c.2744C>G	ENSP00000376783.1:p.Thr915Arg
ENST00000526495.5:c.2744C>G	ENSP00000437256.1:p.Thr915Arg
ENST00000527414.5:c.2744C>G	ENSP00000435681.1:p.Thr915Arg
ENST00000541352.5:c.2744C>G	ENSP00000444719.1:p.Thr915Arg
ENST00000556681.1:n.106C>G
NM_001195573.1:c.2744C>G	NP_001182502.1:p.Thr915Arg
NM_001271282.2:c.2744C>G	NP_001258211.1:p.Thr915Arg
NM_001291628.1:c.2744C>G	NP_001278557.1:p.Thr915Arg
NM_030621.4:c.2744C>G	NP_085124.2:p.Thr915Arg
NM_177438.2:c.2744C>G , LRG_492t1:c.2744C>G	NP_803187.1:p.Thr915Arg
XM_011536599.1:c.2744C>G	XP_011534901.1:p.Thr915Arg
XM_011536600.1:c.2744C>G	XP_011534902.1:p.Thr915Arg
XM_011536601.1:c.2744C>G	XP_011534903.1:p.Thr915Arg
XM_011536602.1:c.2744C>G	XP_011534904.1:p.Thr915Arg
XM_011536603.1:c.2744C>G	XP_011534905.1:p.Thr915Arg
XM_011536604.1:c.2339C>G	XP_011534906.1:p.Thr780Arg
XM_011536605.1:c.1265C>G	XP_011534907.1:p.Thr422Arg
XM_011536599.2:c.2744C>G	XP_011534901.1:p.Thr915Arg
XM_011536600.3:c.2744C>G	XP_011534902.1:p.Thr915Arg
XM_011536601.3:c.2744C>G	XP_011534903.1:p.Thr915Arg
XM_011536602.3:c.2744C>G	XP_011534904.1:p.Thr915Arg
XM_011536604.2:c.2339C>G	XP_011534906.1:p.Thr780Arg
XM_011536605.2:c.1265C>G	XP_011534907.1:p.Thr422Arg
XM_017021120.2:c.2744C>G	XP_016876609.1:p.Thr915Arg
XM_017021121.2:c.2744C>G	XP_016876610.1:p.Thr915Arg
XM_017021122.2:c.2339C>G	XP_016876611.1:p.Thr780Arg
XM_017021123.2:c.2339C>G	XP_016876612.1:p.Thr780Arg
NM_001271282.3:c.2744C>G	NP_001258211.1:p.Thr915Arg
NM_001291628.2:c.2744C>G	NP_001278557.1:p.Thr915Arg
NM_177438.3:c.2744C>G MANE Select	NP_803187.1:p.Thr915Arg
NM_001395677.1:c.2744C>G	NP_001382606.1:p.Thr915Arg
NM_001395678.1:c.2744C>G	NP_001382607.1:p.Thr915Arg
NM_001395679.1:c.2744C>G	NP_001382608.1:p.Thr915Arg
NM_001395680.1:c.2744C>G	NP_001382609.1:p.Thr915Arg
NM_001395682.1:c.2744C>G	NP_001382611.1:p.Thr915Arg
NM_001395683.1:c.2744C>G	NP_001382612.1:p.Thr915Arg
NM_001395684.1:c.2744C>G	NP_001382613.1:p.Thr915Arg
NM_001395685.1:c.2744C>G	NP_001382614.1:p.Thr915Arg
NM_001395686.1:c.2462C>G	NP_001382615.1:p.Thr821Arg
NM_001395687.1:c.2339C>G	NP_001382616.1:p.Thr780Arg
NM_001395688.1:c.2339C>G	NP_001382617.1:p.Thr780Arg
NM_001395689.1:c.2339C>G	NP_001382618.1:p.Thr780Arg
NM_001395690.1:c.2339C>G	NP_001382619.1:p.Thr780Arg
NM_001395691.1:c.2177C>G	NP_001382620.1:p.Thr726Arg
NM_001395692.1:c.2744C>G	NP_001382621.1:p.Thr915Arg
NM_001395693.1:c.2744C>G	NP_001382622.1:p.Thr915Arg
NM_001395694.1:c.2744C>G	NP_001382623.1:p.Thr915Arg
NM_001395695.1:c.2744C>G	NP_001382624.1:p.Thr915Arg
NM_001395696.1:c.2339C>G	NP_001382625.1:p.Thr780Arg
NM_001395697.1:c.1061C>G	NP_001382626.1:p.Thr354Arg
NR_172715.1:n.3162C>G
NR_172716.1:n.3089C>G
NR_172717.1:n.3256C>G
NR_172718.1:n.3256C>G
NR_172719.1:n.3089C>G
NR_172720.1:n.3089C>G