Canonical Allele Identifier: CA390882450
Gene: DICER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687238
ClinVar RCV Id: RCV002250920 RCV003774730
dbSNP Id: rs2140034081
MyVariant Identifiers: chr14:g.95574842T>C (hg19) chr14:g.95108505T>C (hg38)
ERepo: CA390882450/MONDO:0100216/024
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.95108505T>C , CM000676.2:g.95108505T>C GRCh38
NC_000014.8:g.95574842T>C , CM000676.1:g.95574842T>C GRCh37
NC_000014.7:g.94644595T>C NCBI36
NG_016311.1:g.53918A>G , LRG_492:g.53918A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529720.2:c.2257-2A>G ENSP00000433926.2:n.2257-2A>G
ENST00000531162.7:c.2257-2A>G ENSP00000433060.3:n.2257-2A>G
ENST00000674628.2:c.2257-2A>G ENSP00000502730.2:n.2257-2A>G
ENST00000675540.2:c.2257-2A>G ENSP00000501988.2:n.2257-2A>G
ENST00000696733.1:c.2257-2A>G ENSP00000512838.1:n.2257-2A>G
ENST00000696734.1:c.2257-2A>G ENSP00000512839.1:n.2257-2A>G
ENST00000696736.1:c.2257-2A>G ENSP00000512840.1:n.2257-2A>G
ENST00000696737.1:c.2257-2A>G ENSP00000512841.1:n.2257-2A>G
ENST00000696738.1:n.145-2A>G
ENST00000696920.1:n.2520-2A>G
ENST00000696921.1:n.3363-2A>G
ENST00000696922.1:n.2666-2A>G
ENST00000696923.1:c.2257-2A>G ENSP00000512976.1:n.2257-2A>G
ENST00000696924.1:c.2257-2A>G ENSP00000512977.1:n.2257-2A>G
ENST00000696925.1:n.2666-2A>G
ENST00000696927.1:n.1852-2A>G
ENST00000343455.8:c.2257-2A>G MANE Select ENSP00000343745.3:n.2257-2A>G
ENST00000393063.6:c.2257-2A>G ENSP00000376783.1:n.2257-2A>G
ENST00000526495.6:c.2257-2A>G ENSP00000437256.1:n.2257-2A>G
ENST00000532939.3:c.2257-2A>G ENSP00000452556.2:n.2257-2A>G
ENST00000556045.6:c.2257-2A>G ENSP00000451041.2:n.2257-2A>G
ENST00000675540.1:c.79-2A>G ENSP00000501988.1:n.79-2A>G
ENST00000675995.1:c.*573-2A>G ENSP00000502591.1:n.*573-2A>G
ENST00000343455.7:c.2257-2A>G ENSP00000343745.3:n.2257-2A>G
ENST00000393063.5:c.2257-2A>G ENSP00000376783.1:n.2257-2A>G
ENST00000526495.5:c.2257-2A>G ENSP00000437256.1:n.2257-2A>G
ENST00000527414.5:c.2257-2A>G ENSP00000435681.1:n.2257-2A>G
ENST00000541352.5:c.2257-2A>G ENSP00000444719.1:n.2257-2A>G
NM_001195573.1:c.2257-2A>G NP_001182502.1:n.2257-2A>G
NM_001271282.2:c.2257-2A>G NP_001258211.1:n.2257-2A>G
NM_001291628.1:c.2257-2A>G NP_001278557.1:n.2257-2A>G
NM_030621.4:c.2257-2A>G NP_085124.2:n.2257-2A>G
NM_177438.2:c.2257-2A>G , LRG_492t1:c.2257-2A>G NP_803187.1:n.2257-2A>G
XM_011536599.1:c.2257-2A>G XP_011534901.1:n.2257-2A>G
XM_011536600.1:c.2257-2A>G XP_011534902.1:n.2257-2A>G
XM_011536601.1:c.2257-2A>G XP_011534903.1:n.2257-2A>G
XM_011536602.1:c.2257-2A>G XP_011534904.1:n.2257-2A>G
XM_011536603.1:c.2257-2A>G XP_011534905.1:n.2257-2A>G
XM_011536604.1:c.1852-2A>G XP_011534906.1:n.1852-2A>G
XM_011536605.1:c.778-2A>G XP_011534907.1:n.778-2A>G
XM_011536599.2:c.2257-2A>G XP_011534901.1:n.2257-2A>G
XM_011536600.3:c.2257-2A>G XP_011534902.1:n.2257-2A>G
XM_011536601.3:c.2257-2A>G XP_011534903.1:n.2257-2A>G
XM_011536602.3:c.2257-2A>G XP_011534904.1:n.2257-2A>G
XM_011536604.2:c.1852-2A>G XP_011534906.1:n.1852-2A>G
XM_011536605.2:c.778-2A>G XP_011534907.1:n.778-2A>G
XM_017021120.2:c.2257-2A>G XP_016876609.1:n.2257-2A>G
XM_017021121.2:c.2257-2A>G XP_016876610.1:n.2257-2A>G
XM_017021122.2:c.1852-2A>G XP_016876611.1:n.1852-2A>G
XM_017021123.2:c.1852-2A>G XP_016876612.1:n.1852-2A>G
NM_001271282.3:c.2257-2A>G NP_001258211.1:n.2257-2A>G
NM_001291628.2:c.2257-2A>G NP_001278557.1:n.2257-2A>G
NM_177438.3:c.2257-2A>G MANE Select NP_803187.1:n.2257-2A>G
NM_001395677.1:c.2257-2A>G NP_001382606.1:n.2257-2A>G
NM_001395678.1:c.2257-2A>G NP_001382607.1:n.2257-2A>G
NM_001395679.1:c.2257-2A>G NP_001382608.1:n.2257-2A>G
NM_001395680.1:c.2257-2A>G NP_001382609.1:n.2257-2A>G
NM_001395682.1:c.2257-2A>G NP_001382611.1:n.2257-2A>G
NM_001395683.1:c.2257-2A>G NP_001382612.1:n.2257-2A>G
NM_001395684.1:c.2257-2A>G NP_001382613.1:n.2257-2A>G
NM_001395685.1:c.2257-2A>G NP_001382614.1:n.2257-2A>G
NM_001395686.1:c.1975-2A>G NP_001382615.1:n.1975-2A>G
NM_001395687.1:c.1852-2A>G NP_001382616.1:n.1852-2A>G
NM_001395688.1:c.1852-2A>G NP_001382617.1:n.1852-2A>G
NM_001395689.1:c.1852-2A>G NP_001382618.1:n.1852-2A>G
NM_001395690.1:c.1852-2A>G NP_001382619.1:n.1852-2A>G
NM_001395691.1:c.1690-2A>G NP_001382620.1:n.1690-2A>G
NM_001395692.1:c.2257-2A>G NP_001382621.1:n.2257-2A>G
NM_001395693.1:c.2257-2A>G NP_001382622.1:n.2257-2A>G
NM_001395694.1:c.2257-2A>G NP_001382623.1:n.2257-2A>G
NM_001395695.1:c.2257-2A>G NP_001382624.1:n.2257-2A>G
NM_001395696.1:c.1852-2A>G NP_001382625.1:n.1852-2A>G
NM_001395697.1:c.574-2A>G NP_001382626.1:n.574-2A>G
NR_172715.1:n.2675-2A>G
NR_172716.1:n.2602-2A>G
NR_172717.1:n.2769-2A>G
NR_172718.1:n.2769-2A>G
NR_172719.1:n.2602-2A>G
NR_172720.1:n.2602-2A>G
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