Canonical Allele Identifier: CA390878663
Gene: DICER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429116
ClinVar RCV Id: RCV000494263 RCV000696105
dbSNP Id: rs1131691192
MyVariant Identifiers: chr14:g.95572121C>A (hg19) chr14:g.95105784C>A (hg38)
ERepo: CA390878663/MONDO:0017288/024
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.95105784C>A , CM000676.2:g.95105784C>A GRCh38
NC_000014.8:g.95572121C>A , CM000676.1:g.95572121C>A GRCh37
NC_000014.7:g.94641874C>A NCBI36
NG_016311.1:g.56639G>T , LRG_492:g.56639G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529720.2:c.2988-1G>T ENSP00000433926.2:n.2988-1G>T
ENST00000531162.7:c.2988-1G>T ENSP00000433060.3:n.2988-1G>T
ENST00000674628.2:c.2988-1G>T ENSP00000502730.2:n.2988-1G>T
ENST00000675540.2:c.2988-1G>T ENSP00000501988.2:n.2988-1G>T
ENST00000696733.1:c.2988-1G>T ENSP00000512838.1:n.2988-1G>T
ENST00000696734.1:c.2988-1G>T ENSP00000512839.1:n.2988-1G>T
ENST00000696736.1:c.2988-1G>T ENSP00000512840.1:n.2988-1G>T
ENST00000696737.1:c.2988-1G>T ENSP00000512841.1:n.2988-1G>T
ENST00000696738.1:n.876-1G>T
ENST00000696920.1:n.3251-1G>T
ENST00000696921.1:n.4094-1G>T
ENST00000696922.1:n.3397-1G>T
ENST00000696923.1:c.2988-1G>T ENSP00000512976.1:n.2988-1G>T
ENST00000696924.1:c.2988-1G>T ENSP00000512977.1:n.2988-1G>T
ENST00000696925.1:n.3397-1G>T
ENST00000343455.8:c.2988-1G>T MANE Select ENSP00000343745.3:n.2988-1G>T
ENST00000393063.6:c.2988-1G>T ENSP00000376783.1:n.2988-1G>T
ENST00000526495.6:c.2988-1G>T ENSP00000437256.1:n.2988-1G>T
ENST00000532939.3:c.2988-1G>T ENSP00000452556.2:n.2988-1G>T
ENST00000556045.6:c.2988-1G>T ENSP00000451041.2:n.2988-1G>T
ENST00000675540.1:c.810-1G>T ENSP00000501988.1:n.810-1G>T
ENST00000675995.1:c.*1304-1G>T ENSP00000502591.1:n.*1304-1G>T
ENST00000343455.7:c.2988-1G>T ENSP00000343745.3:n.2988-1G>T
ENST00000393063.5:c.2988-1G>T ENSP00000376783.1:n.2988-1G>T
ENST00000526495.5:c.2988-1G>T ENSP00000437256.1:n.2988-1G>T
ENST00000527414.5:c.2988-1G>T ENSP00000435681.1:n.2988-1G>T
ENST00000541352.5:c.2988-1G>T ENSP00000444719.1:n.2988-1G>T
ENST00000554367.1:n.197-1G>T
ENST00000556045.5:c.-242-1G>T ENSP00000451041.1:n.-242-1G>T
NM_001195573.1:c.2988-1G>T NP_001182502.1:n.2988-1G>T
NM_001271282.2:c.2988-1G>T NP_001258211.1:n.2988-1G>T
NM_001291628.1:c.2988-1G>T NP_001278557.1:n.2988-1G>T
NM_030621.4:c.2988-1G>T NP_085124.2:n.2988-1G>T
NM_177438.2:c.2988-1G>T , LRG_492t1:c.2988-1G>T NP_803187.1:n.2988-1G>T
XM_011536599.1:c.2988-1G>T XP_011534901.1:n.2988-1G>T
XM_011536600.1:c.2988-1G>T XP_011534902.1:n.2988-1G>T
XM_011536601.1:c.2988-1G>T XP_011534903.1:n.2988-1G>T
XM_011536602.1:c.2988-1G>T XP_011534904.1:n.2988-1G>T
XM_011536603.1:c.2988-1G>T XP_011534905.1:n.2988-1G>T
XM_011536604.1:c.2583-1G>T XP_011534906.1:n.2583-1G>T
XM_011536605.1:c.1509-1G>T XP_011534907.1:n.1509-1G>T
XM_011536599.2:c.2988-1G>T XP_011534901.1:n.2988-1G>T
XM_011536600.3:c.2988-1G>T XP_011534902.1:n.2988-1G>T
XM_011536601.3:c.2988-1G>T XP_011534903.1:n.2988-1G>T
XM_011536602.3:c.2988-1G>T XP_011534904.1:n.2988-1G>T
XM_011536604.2:c.2583-1G>T XP_011534906.1:n.2583-1G>T
XM_011536605.2:c.1509-1G>T XP_011534907.1:n.1509-1G>T
XM_017021120.2:c.2988-1G>T XP_016876609.1:n.2988-1G>T
XM_017021121.2:c.2988-1G>T XP_016876610.1:n.2988-1G>T
XM_017021122.2:c.2583-1G>T XP_016876611.1:n.2583-1G>T
XM_017021123.2:c.2583-1G>T XP_016876612.1:n.2583-1G>T
NM_001271282.3:c.2988-1G>T NP_001258211.1:n.2988-1G>T
NM_001291628.2:c.2988-1G>T NP_001278557.1:n.2988-1G>T
NM_177438.3:c.2988-1G>T MANE Select NP_803187.1:n.2988-1G>T
NM_001395677.1:c.2988-1G>T NP_001382606.1:n.2988-1G>T
NM_001395678.1:c.2988-1G>T NP_001382607.1:n.2988-1G>T
NM_001395679.1:c.2988-1G>T NP_001382608.1:n.2988-1G>T
NM_001395680.1:c.2988-1G>T NP_001382609.1:n.2988-1G>T
NM_001395682.1:c.2988-1G>T NP_001382611.1:n.2988-1G>T
NM_001395683.1:c.2988-1G>T NP_001382612.1:n.2988-1G>T
NM_001395684.1:c.2988-1G>T NP_001382613.1:n.2988-1G>T
NM_001395685.1:c.2988-1G>T NP_001382614.1:n.2988-1G>T
NM_001395686.1:c.2706-1G>T NP_001382615.1:n.2706-1G>T
NM_001395687.1:c.2583-1G>T NP_001382616.1:n.2583-1G>T
NM_001395688.1:c.2583-1G>T NP_001382617.1:n.2583-1G>T
NM_001395689.1:c.2583-1G>T NP_001382618.1:n.2583-1G>T
NM_001395690.1:c.2583-1G>T NP_001382619.1:n.2583-1G>T
NM_001395691.1:c.2421-1G>T NP_001382620.1:n.2421-1G>T
NM_001395692.1:c.2988-1G>T NP_001382621.1:n.2988-1G>T
NM_001395693.1:c.2988-1G>T NP_001382622.1:n.2988-1G>T
NM_001395694.1:c.2988-1G>T NP_001382623.1:n.2988-1G>T
NM_001395695.1:c.2988-1G>T NP_001382624.1:n.2988-1G>T
NM_001395696.1:c.2583-1G>T NP_001382625.1:n.2583-1G>T
NM_001395697.1:c.1305-1G>T NP_001382626.1:n.1305-1G>T
NR_172715.1:n.3406-1G>T
NR_172716.1:n.3589G>T
NR_172717.1:n.3500-1G>T
NR_172718.1:n.3500-1G>T
NR_172719.1:n.3333-1G>T
NR_172720.1:n.3333-1G>T
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