Canonical Allele Identifier: CA331833
Community Standard Title: NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94447275C>T , CM000673.2:g.94447275C>T GRCh38
NC_000011.9:g.94180441C>T , CM000673.1:g.94180441C>T GRCh37
NC_000011.8:g.93820089C>T NCBI36
NG_007261.1:g.51600G>A , LRG_85:g.51600G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.1727G>A MANE Select NP_005582.1:p.Arg576Gln
ENST00000323929.8:c.1727G>A MANE Select ENSP00000325863.4:p.Arg576Gln
NM_001330347.1:c.1727G>A NP_001317276.1:p.Arg576Gln
NM_001330347.2:c.1727G>A NP_001317276.1:p.Arg576Gln
NM_005590.3:c.1727G>A NP_005581.2:p.Arg576Gln
NM_005590.4:c.1727G>A NP_005581.2:p.Arg576Gln
NM_005591.3:c.1727G>A , LRG_85t1:c.1727G>A NP_005582.1:p.Arg576Gln
ENST00000323929.7:c.1727G>A ENSP00000325863.3:p.Arg576Gln
ENST00000323977.7:c.1727G>A ENSP00000326094.3:p.Arg576Gln
ENST00000393241.8:c.1727G>A ENSP00000376933.4:p.Arg576Gln
ENST00000407439.7:c.1736G>A ENSP00000385614.3:p.Arg579Gln
ENST00000535120.1:n.26G>A
XM_005274008.2:c.1259G>A XP_005274065.1:p.Arg420Gln
XM_005274008.3:c.1259G>A XP_005274065.1:p.Arg420Gln
XM_006718842.2:c.1727G>A XP_006718905.1:p.Arg576Gln
XM_006718842.3:c.1727G>A XP_006718905.1:p.Arg576Gln
XM_011542837.1:c.1727G>A XP_011541139.1:p.Arg576Gln
XM_011542837.2:c.1727G>A XP_011541139.1:p.Arg576Gln
XM_017017772.1:c.1727G>A XP_016873261.1:p.Arg576Gln
XR_947828.1:n.2023G>A
XR_947828.2:n.2023G>A