Canonical Allele Identifier: CA390865129
Community Standard Title: NM_177438.3(DICER1):c.5248G>A (p.Val1750Ile)
Gene: DICER1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.95094004C>T , CM000676.2:g.95094004C>T GRCh38
NC_000014.8:g.95560341C>T , CM000676.1:g.95560341C>T GRCh37
NC_000014.7:g.94630094C>T NCBI36
NG_016311.1:g.68419G>A , LRG_492:g.68419G>A

Transcript Alleles

HGVS Amino-acid Change
NM_177438.3:c.5248G>A MANE Select NP_803187.1:p.Val1750Ile
ENST00000343455.8:c.5248G>A MANE Select ENSP00000343745.3:p.Val1750Ile
NM_001195573.1:c.5248G>A NP_001182502.1:p.Val1750Ile
NM_001271282.2:c.5248G>A NP_001258211.1:p.Val1750Ile
NM_001271282.3:c.5248G>A NP_001258211.1:p.Val1750Ile
NM_001291628.1:c.5248G>A NP_001278557.1:p.Val1750Ile
NM_001291628.2:c.5248G>A NP_001278557.1:p.Val1750Ile
NM_001395677.1:c.5248G>A NP_001382606.1:p.Val1750Ile
NM_001395678.1:c.5248G>A NP_001382607.1:p.Val1750Ile
NM_001395679.1:c.5248G>A NP_001382608.1:p.Val1750Ile
NM_001395680.1:c.5248G>A NP_001382609.1:p.Val1750Ile
NM_001395682.1:c.5248G>A NP_001382611.1:p.Val1750Ile
NM_001395683.1:c.5248G>A NP_001382612.1:p.Val1750Ile
NM_001395684.1:c.5248G>A NP_001382613.1:p.Val1750Ile
NM_001395685.1:c.5248G>A NP_001382614.1:p.Val1750Ile
NM_001395686.1:c.4966G>A NP_001382615.1:p.Val1656Ile
NM_001395687.1:c.4843G>A NP_001382616.1:p.Val1615Ile
NM_001395688.1:c.4843G>A NP_001382617.1:p.Val1615Ile
NM_001395689.1:c.4843G>A NP_001382618.1:p.Val1615Ile
NM_001395690.1:c.4843G>A NP_001382619.1:p.Val1615Ile
NM_001395691.1:c.4681G>A NP_001382620.1:p.Val1561Ile
NM_001395697.1:c.3565G>A NP_001382626.1:p.Val1189Ile
NM_030621.4:c.5248G>A NP_085124.2:p.Val1750Ile
NM_177438.2:c.5248G>A , LRG_492t1:c.5248G>A NP_803187.1:p.Val1750Ile
NR_172715.1:n.5666G>A
NR_172716.1:n.5850G>A
NR_172717.1:n.5760G>A
NR_172718.1:n.5683G>A
NR_172719.1:n.5516G>A
NR_172720.1:n.5593G>A
ENST00000343455.7:c.5248G>A ENSP00000343745.3:p.Val1750Ile
ENST00000393063.5:c.5248G>A ENSP00000376783.1:p.Val1750Ile
ENST00000393063.6:c.5248G>A ENSP00000376783.1:p.Val1750Ile
ENST00000526495.5:c.5248G>A ENSP00000437256.1:p.Val1750Ile
ENST00000526495.6:c.5248G>A ENSP00000437256.1:p.Val1750Ile
ENST00000527414.5:c.5248G>A ENSP00000435681.1:p.Val1750Ile
ENST00000529720.2:c.5248G>A ENSP00000433926.2:p.Val1750Ile
ENST00000531162.7:c.5248G>A ENSP00000433060.3:p.Val1750Ile
ENST00000541352.5:c.5248G>A ENSP00000444719.1:p.Val1750Ile
ENST00000556045.5:c.1942G>A ENSP00000451041.1:p.Val648Ile
ENST00000556045.6:c.5248G>A ENSP00000451041.2:p.Val1750Ile
ENST00000674628.2:c.5248G>A ENSP00000502730.2:p.Val1750Ile
ENST00000675540.1:c.2993G>A ENSP00000501988.1:n.2993G>A
ENST00000675540.2:c.*1898G>A ENSP00000501988.2:n.*1898G>A
ENST00000675995.1:c.*3564G>A ENSP00000502591.1:n.*3564G>A
ENST00000696733.1:c.5248G>A ENSP00000512838.1:p.Val1750Ile
ENST00000696734.1:c.5248G>A ENSP00000512839.1:p.Val1750Ile
ENST00000696735.1:n.2235G>A
ENST00000696736.1:c.5248G>A ENSP00000512840.1:p.Val1750Ile
ENST00000696920.1:n.5511G>A
ENST00000696921.1:n.6354G>A
ENST00000696922.1:n.5657G>A
ENST00000696923.1:c.5248G>A ENSP00000512976.1:p.Val1750Ile
ENST00000696924.1:c.5248G>A ENSP00000512977.1:p.Val1750Ile
ENST00000696925.1:n.5657G>A
XM_011536599.1:c.5248G>A XP_011534901.1:p.Val1750Ile
XM_011536599.2:c.5248G>A XP_011534901.1:p.Val1750Ile
XM_011536600.1:c.5248G>A XP_011534902.1:p.Val1750Ile
XM_011536600.3:c.5248G>A XP_011534902.1:p.Val1750Ile
XM_011536601.1:c.5248G>A XP_011534903.1:p.Val1750Ile
XM_011536601.3:c.5248G>A XP_011534903.1:p.Val1750Ile
XM_011536602.1:c.5248G>A XP_011534904.1:p.Val1750Ile
XM_011536602.3:c.5248G>A XP_011534904.1:p.Val1750Ile
XM_011536603.1:c.5248G>A XP_011534905.1:p.Val1750Ile
XM_011536604.1:c.4843G>A XP_011534906.1:p.Val1615Ile
XM_011536604.2:c.4843G>A XP_011534906.1:p.Val1615Ile
XM_011536605.1:c.3769G>A XP_011534907.1:p.Val1257Ile
XM_011536605.2:c.3769G>A XP_011534907.1:p.Val1257Ile
XM_017021120.2:c.5248G>A XP_016876609.1:p.Val1750Ile
XM_017021121.2:c.5248G>A XP_016876610.1:p.Val1750Ile
XM_017021122.2:c.4843G>A XP_016876611.1:p.Val1615Ile
XM_017021123.2:c.4843G>A XP_016876612.1:p.Val1615Ile