Canonical Allele Identifier: CA16614186

Gene: DICER1

Linked Data

• ClinVar Variation Id: 412166
• ClinVar RCV Id: RCV000456821
• dbSNP Id: rs1060503650
• gnomAD v4: 14-95103528-G-A
• MyVariant Identifiers: chr14:g.95569865G>A (hg19) ; chr14:g.95103528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95103528G>A , CM000676.2:g.95103528G>A	GRCh38
NC_000014.8:g.95569865G>A , CM000676.1:g.95569865G>A	GRCh37
NC_000014.7:g.94639618G>A	NCBI36
NG_016311.1:g.58895C>T , LRG_492:g.58895C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529720.2:c.3868C>T	ENSP00000433926.2:p.Leu1290Phe
ENST00000531162.7:c.3868C>T	ENSP00000433060.3:p.Leu1290Phe
ENST00000674628.2:c.3868C>T	ENSP00000502730.2:p.Leu1290Phe
ENST00000675540.2:c.*518C>T	ENSP00000501988.2:n.*518C>T
ENST00000696733.1:c.3868C>T	ENSP00000512838.1:p.Leu1290Phe
ENST00000696734.1:c.3868C>T	ENSP00000512839.1:p.Leu1290Phe
ENST00000696735.1:n.855C>T
ENST00000696736.1:c.3868C>T	ENSP00000512840.1:p.Leu1290Phe
ENST00000696737.1:c.3868C>T	ENSP00000512841.1:p.Leu1290Phe
ENST00000696738.1:n.1756C>T
ENST00000696920.1:n.4131C>T
ENST00000696921.1:n.4974C>T
ENST00000696922.1:n.4277C>T
ENST00000696923.1:c.3868C>T	ENSP00000512976.1:p.Leu1290Phe
ENST00000696924.1:c.3868C>T	ENSP00000512977.1:p.Leu1290Phe
ENST00000696925.1:n.4277C>T
ENST00000696926.1:n.1031C>T
ENST00000343455.8:c.3868C>T MANE Select	ENSP00000343745.3:p.Leu1290Phe
ENST00000393063.6:c.3868C>T	ENSP00000376783.1:p.Leu1290Phe
ENST00000526495.6:c.3868C>T	ENSP00000437256.1:p.Leu1290Phe
ENST00000532939.3:c.3868C>T	ENSP00000452556.2:p.Leu1290Phe
ENST00000556045.6:c.3868C>T	ENSP00000451041.2:p.Leu1290Phe
ENST00000675540.1:c.1613C>T	ENSP00000501988.1:n.1613C>T
ENST00000675995.1:c.*2184C>T	ENSP00000502591.1:n.*2184C>T
ENST00000343455.7:c.3868C>T	ENSP00000343745.3:p.Leu1290Phe
ENST00000393063.5:c.3868C>T	ENSP00000376783.1:p.Leu1290Phe
ENST00000526495.5:c.3868C>T	ENSP00000437256.1:p.Leu1290Phe
ENST00000527414.5:c.3868C>T	ENSP00000435681.1:p.Leu1290Phe
ENST00000541352.5:c.3868C>T	ENSP00000444719.1:p.Leu1290Phe
ENST00000556045.5:c.562C>T	ENSP00000451041.1:p.Leu188Phe
NM_001195573.1:c.3868C>T	NP_001182502.1:p.Leu1290Phe
NM_001271282.2:c.3868C>T	NP_001258211.1:p.Leu1290Phe
NM_001291628.1:c.3868C>T	NP_001278557.1:p.Leu1290Phe
NM_030621.4:c.3868C>T	NP_085124.2:p.Leu1290Phe
NM_177438.2:c.3868C>T , LRG_492t1:c.3868C>T	NP_803187.1:p.Leu1290Phe
XM_011536599.1:c.3868C>T	XP_011534901.1:p.Leu1290Phe
XM_011536600.1:c.3868C>T	XP_011534902.1:p.Leu1290Phe
XM_011536601.1:c.3868C>T	XP_011534903.1:p.Leu1290Phe
XM_011536602.1:c.3868C>T	XP_011534904.1:p.Leu1290Phe
XM_011536603.1:c.3868C>T	XP_011534905.1:p.Leu1290Phe
XM_011536604.1:c.3463C>T	XP_011534906.1:p.Leu1155Phe
XM_011536605.1:c.2389C>T	XP_011534907.1:p.Leu797Phe
XM_011536599.2:c.3868C>T	XP_011534901.1:p.Leu1290Phe
XM_011536600.3:c.3868C>T	XP_011534902.1:p.Leu1290Phe
XM_011536601.3:c.3868C>T	XP_011534903.1:p.Leu1290Phe
XM_011536602.3:c.3868C>T	XP_011534904.1:p.Leu1290Phe
XM_011536604.2:c.3463C>T	XP_011534906.1:p.Leu1155Phe
XM_011536605.2:c.2389C>T	XP_011534907.1:p.Leu797Phe
XM_017021120.2:c.3868C>T	XP_016876609.1:p.Leu1290Phe
XM_017021121.2:c.3868C>T	XP_016876610.1:p.Leu1290Phe
XM_017021122.2:c.3463C>T	XP_016876611.1:p.Leu1155Phe
XM_017021123.2:c.3463C>T	XP_016876612.1:p.Leu1155Phe
NM_001271282.3:c.3868C>T	NP_001258211.1:p.Leu1290Phe
NM_001291628.2:c.3868C>T	NP_001278557.1:p.Leu1290Phe
NM_177438.3:c.3868C>T MANE Select	NP_803187.1:p.Leu1290Phe
NM_001395677.1:c.3868C>T	NP_001382606.1:p.Leu1290Phe
NM_001395678.1:c.3868C>T	NP_001382607.1:p.Leu1290Phe
NM_001395679.1:c.3868C>T	NP_001382608.1:p.Leu1290Phe
NM_001395680.1:c.3868C>T	NP_001382609.1:p.Leu1290Phe
NM_001395682.1:c.3868C>T	NP_001382611.1:p.Leu1290Phe
NM_001395683.1:c.3868C>T	NP_001382612.1:p.Leu1290Phe
NM_001395684.1:c.3868C>T	NP_001382613.1:p.Leu1290Phe
NM_001395685.1:c.3868C>T	NP_001382614.1:p.Leu1290Phe
NM_001395686.1:c.3586C>T	NP_001382615.1:p.Leu1196Phe
NM_001395687.1:c.3463C>T	NP_001382616.1:p.Leu1155Phe
NM_001395688.1:c.3463C>T	NP_001382617.1:p.Leu1155Phe
NM_001395689.1:c.3463C>T	NP_001382618.1:p.Leu1155Phe
NM_001395690.1:c.3463C>T	NP_001382619.1:p.Leu1155Phe
NM_001395691.1:c.3301C>T	NP_001382620.1:p.Leu1101Phe
NM_001395692.1:c.3868C>T	NP_001382621.1:p.Leu1290Phe
NM_001395693.1:c.3868C>T	NP_001382622.1:p.Leu1290Phe
NM_001395694.1:c.3868C>T	NP_001382623.1:p.Leu1290Phe
NM_001395695.1:c.3868C>T	NP_001382624.1:p.Leu1290Phe
NM_001395696.1:c.3463C>T	NP_001382625.1:p.Leu1155Phe
NM_001395697.1:c.2185C>T	NP_001382626.1:p.Leu729Phe
NR_172715.1:n.4286C>T
NR_172716.1:n.4470C>T
NR_172717.1:n.4380C>T
NR_172718.1:n.4303C>T
NR_172719.1:n.4136C>T
NR_172720.1:n.4213C>T