Canonical Allele Identifier: CA6235438
Gene: MRE11 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94486009C>T , CM000673.2:g.94486009C>T GRCh38
NC_000011.9:g.94219175C>T , CM000673.1:g.94219175C>T GRCh37
NC_000011.8:g.93858823C>T NCBI36
NG_007261.1:g.12866G>A , LRG_85:g.12866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.229G>A MANE Select ENSP00000325863.4:p.Glu77Lys
ENST00000323929.7:c.229G>A ENSP00000325863.3:p.Glu77Lys
ENST00000323977.7:c.229G>A ENSP00000326094.3:p.Glu77Lys
ENST00000393241.8:c.229G>A ENSP00000376933.4:p.Glu77Lys
ENST00000407439.7:c.238G>A ENSP00000385614.3:p.Glu80Lys
ENST00000536144.1:n.464G>A
ENST00000536754.5:c.229G>A ENSP00000439511.1:p.Glu77Lys
ENST00000538923.1:c.229G>A ENSP00000442809.1:p.Glu77Lys
ENST00000540013.5:c.229G>A ENSP00000440986.1:p.Glu77Lys
ENST00000541157.5:n.393G>A
NM_005590.3:c.229G>A NP_005581.2:p.Glu77Lys
NM_005591.3:c.229G>A , LRG_85t1:c.229G>A NP_005582.1:p.Glu77Lys
XM_005274008.2:c.-236G>A XP_005274065.1:n.-236G>A
XM_006718842.2:c.229G>A XP_006718905.1:p.Glu77Lys
XM_011542837.1:c.229G>A XP_011541139.1:p.Glu77Lys
XR_947828.1:n.525G>A
NM_001330347.1:c.229G>A NP_001317276.1:p.Glu77Lys
XM_005274008.3:c.-236G>A XP_005274065.1:n.-236G>A
XM_006718842.3:c.229G>A XP_006718905.1:p.Glu77Lys
XM_011542837.2:c.229G>A XP_011541139.1:p.Glu77Lys
XM_017017772.1:c.229G>A XP_016873261.1:p.Glu77Lys
XR_947828.2:n.525G>A
NM_001330347.2:c.229G>A NP_001317276.1:p.Glu77Lys
NM_005590.4:c.229G>A NP_005581.2:p.Glu77Lys
NM_005591.4:c.229G>A MANE Select NP_005582.1:p.Glu77Lys