Canonical Allele Identifier: CA7331506

Gene: DICER1

Linked Data

• ClinVar Variation Id: 417078
• ClinVar RCV Id: RCV000470288 ; RCV000573058 ; RCV003316628 ; RCV003972801
• dbSNP Id: rs776143079
• ExAC: 14:95590580 G / A
• gnomAD v2: 14-95590580-G-A
• gnomAD v3: 14-95124243-G-A
• gnomAD v4: 14-95124243-G-A
• COSMIC: COSM4825629
• MyVariant Identifiers: chr14:g.95590580G>A (hg19) ; chr14:g.95124243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95124243G>A , CM000676.2:g.95124243G>A	GRCh38
NC_000014.8:g.95590580G>A , CM000676.1:g.95590580G>A	GRCh37
NC_000014.7:g.94660333G>A	NCBI36
NG_016311.1:g.38180C>T , LRG_492:g.38180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529720.2:c.1329C>T	ENSP00000433926.2:p.Cys443=
ENST00000531162.7:c.1329C>T	ENSP00000433060.3:p.Cys443=
ENST00000674628.2:c.1329C>T	ENSP00000502730.2:p.Cys443=
ENST00000675540.2:c.1329C>T	ENSP00000501988.2:p.Cys443=
ENST00000696733.1:c.1329C>T	ENSP00000512838.1:p.Cys443=
ENST00000696734.1:c.1329C>T	ENSP00000512839.1:p.Cys443=
ENST00000696736.1:c.1329C>T	ENSP00000512840.1:p.Cys443=
ENST00000696737.1:c.1329C>T	ENSP00000512841.1:p.Cys443=
ENST00000696921.1:n.2435C>T
ENST00000696922.1:n.1738C>T
ENST00000696923.1:c.1329C>T	ENSP00000512976.1:p.Cys443=
ENST00000696924.1:c.1329C>T	ENSP00000512977.1:p.Cys443=
ENST00000696925.1:n.1738C>T
ENST00000696927.1:n.932C>T
ENST00000696928.1:n.1526C>T
ENST00000343455.8:c.1329C>T MANE Select	ENSP00000343745.3:p.Cys443=
ENST00000393063.6:c.1329C>T	ENSP00000376783.1:p.Cys443=
ENST00000526495.6:c.1329C>T	ENSP00000437256.1:p.Cys443=
ENST00000532939.3:c.1329C>T	ENSP00000452556.2:p.Cys443=
ENST00000556045.6:c.1329C>T	ENSP00000451041.2:p.Cys443=
ENST00000674628.1:c.1329C>T	ENSP00000502730.1:p.Cys443=
ENST00000675995.1:c.1329C>T	ENSP00000502591.1:p.Cys443=
ENST00000343455.7:c.1329C>T	ENSP00000343745.3:p.Cys443=
ENST00000393063.5:c.1329C>T	ENSP00000376783.1:p.Cys443=
ENST00000526495.5:c.1329C>T	ENSP00000437256.1:p.Cys443=
ENST00000527414.5:c.1329C>T	ENSP00000435681.1:p.Cys443=
ENST00000532458.1:n.33C>T
ENST00000541352.5:c.1329C>T	ENSP00000444719.1:p.Cys443=
NM_001195573.1:c.1329C>T	NP_001182502.1:p.Cys443=
NM_001271282.2:c.1329C>T	NP_001258211.1:p.Cys443=
NM_001291628.1:c.1329C>T	NP_001278557.1:p.Cys443=
NM_030621.4:c.1329C>T	NP_085124.2:p.Cys443=
NM_177438.2:c.1329C>T , LRG_492t1:c.1329C>T	NP_803187.1:p.Cys443=
XM_011536599.1:c.1329C>T	XP_011534901.1:p.Cys443=
XM_011536600.1:c.1329C>T	XP_011534902.1:p.Cys443=
XM_011536601.1:c.1329C>T	XP_011534903.1:p.Cys443=
XM_011536602.1:c.1329C>T	XP_011534904.1:p.Cys443=
XM_011536603.1:c.1329C>T	XP_011534905.1:p.Cys443=
XM_011536604.1:c.924C>T	XP_011534906.1:p.Cys308=
XM_011536599.2:c.1329C>T	XP_011534901.1:p.Cys443=
XM_011536600.3:c.1329C>T	XP_011534902.1:p.Cys443=
XM_011536601.3:c.1329C>T	XP_011534903.1:p.Cys443=
XM_011536602.3:c.1329C>T	XP_011534904.1:p.Cys443=
XM_011536604.2:c.924C>T	XP_011534906.1:p.Cys308=
XM_017021120.2:c.1329C>T	XP_016876609.1:p.Cys443=
XM_017021121.2:c.1329C>T	XP_016876610.1:p.Cys443=
XM_017021122.2:c.924C>T	XP_016876611.1:p.Cys308=
XM_017021123.2:c.924C>T	XP_016876612.1:p.Cys308=
NM_001271282.3:c.1329C>T	NP_001258211.1:p.Cys443=
NM_001291628.2:c.1329C>T	NP_001278557.1:p.Cys443=
NM_177438.3:c.1329C>T MANE Select	NP_803187.1:p.Cys443=
NM_001395677.1:c.1329C>T	NP_001382606.1:p.Cys443=
NM_001395678.1:c.1329C>T	NP_001382607.1:p.Cys443=
NM_001395679.1:c.1329C>T	NP_001382608.1:p.Cys443=
NM_001395680.1:c.1329C>T	NP_001382609.1:p.Cys443=
NM_001395682.1:c.1329C>T	NP_001382611.1:p.Cys443=
NM_001395683.1:c.1329C>T	NP_001382612.1:p.Cys443=
NM_001395684.1:c.1329C>T	NP_001382613.1:p.Cys443=
NM_001395685.1:c.1329C>T	NP_001382614.1:p.Cys443=
NM_001395686.1:c.1047C>T	NP_001382615.1:p.Cys349=
NM_001395687.1:c.924C>T	NP_001382616.1:p.Cys308=
NM_001395688.1:c.924C>T	NP_001382617.1:p.Cys308=
NM_001395689.1:c.924C>T	NP_001382618.1:p.Cys308=
NM_001395690.1:c.924C>T	NP_001382619.1:p.Cys308=
NM_001395691.1:c.762C>T	NP_001382620.1:p.Cys254=
NM_001395692.1:c.1329C>T	NP_001382621.1:p.Cys443=
NM_001395693.1:c.1329C>T	NP_001382622.1:p.Cys443=
NM_001395694.1:c.1329C>T	NP_001382623.1:p.Cys443=
NM_001395695.1:c.1329C>T	NP_001382624.1:p.Cys443=
NM_001395696.1:c.924C>T	NP_001382625.1:p.Cys308=
NM_001395697.1:c.-240C>T	NP_001382626.1:n.-240C>T
NM_001395698.1:c.924C>T	NP_001382627.1:p.Cys308=
NM_001395699.1:c.1329C>T	NP_001382628.1:p.Cys443=
NM_001395700.1:c.1329C>T	NP_001382629.1:p.Cys443=
NR_172715.1:n.1543C>T
NR_172716.1:n.1674C>T
NR_172717.1:n.1841C>T
NR_172718.1:n.1841C>T
NR_172719.1:n.1674C>T
NR_172720.1:n.1674C>T