Canonical Allele Identifier: CA382373673
Community Standard Title: NM_005591.4(MRE11):c.1084C>G (p.Leu362Val)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94467827G>C , CM000673.2:g.94467827G>C GRCh38
NC_000011.9:g.94200993G>C , CM000673.1:g.94200993G>C GRCh37
NC_000011.8:g.93840641G>C NCBI36
NG_007261.1:g.31048C>G , LRG_85:g.31048C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.1084C>G MANE Select NP_005582.1:p.Leu362Val
ENST00000323929.8:c.1084C>G MANE Select ENSP00000325863.4:p.Leu362Val
NM_001330347.1:c.1084C>G NP_001317276.1:p.Leu362Val
NM_001330347.2:c.1084C>G NP_001317276.1:p.Leu362Val
NM_005590.3:c.1084C>G NP_005581.2:p.Leu362Val
NM_005590.4:c.1084C>G NP_005581.2:p.Leu362Val
NM_005591.3:c.1084C>G , LRG_85t1:c.1084C>G NP_005582.1:p.Leu362Val
ENST00000323929.7:c.1084C>G ENSP00000325863.3:p.Leu362Val
ENST00000323977.7:c.1084C>G ENSP00000326094.3:p.Leu362Val
ENST00000393241.8:c.1084C>G ENSP00000376933.4:p.Leu362Val
ENST00000407439.7:c.1093C>G ENSP00000385614.3:p.Leu365Val
XM_005274008.2:c.616C>G XP_005274065.1:p.Leu206Val
XM_005274008.3:c.616C>G XP_005274065.1:p.Leu206Val
XM_006718842.2:c.1084C>G XP_006718905.1:p.Leu362Val
XM_006718842.3:c.1084C>G XP_006718905.1:p.Leu362Val
XM_011542837.1:c.1084C>G XP_011541139.1:p.Leu362Val
XM_011542837.2:c.1084C>G XP_011541139.1:p.Leu362Val
XM_017017772.1:c.1084C>G XP_016873261.1:p.Leu362Val
XR_947828.1:n.1380C>G
XR_947828.2:n.1380C>G