Canonical Allele Identifier: CA382379927
Gene: MRE11 HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94486070C>G , CM000673.2:g.94486070C>G GRCh38
NC_000011.9:g.94219236C>G , CM000673.1:g.94219236C>G GRCh37
NC_000011.8:g.93858884C>G NCBI36
NG_007261.1:g.12805G>C , LRG_85:g.12805G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.168G>C MANE Select ENSP00000325863.4:p.Leu56Phe
ENST00000323929.7:c.168G>C ENSP00000325863.3:p.Leu56Phe
ENST00000323977.7:c.168G>C ENSP00000326094.3:p.Leu56Phe
ENST00000393241.8:c.168G>C ENSP00000376933.4:p.Leu56Phe
ENST00000407439.7:c.177G>C ENSP00000385614.3:p.Leu59Phe
ENST00000536144.1:n.403G>C
ENST00000536754.5:c.168G>C ENSP00000439511.1:p.Leu56Phe
ENST00000538923.1:c.168G>C ENSP00000442809.1:p.Leu56Phe
ENST00000540013.5:c.168G>C ENSP00000440986.1:p.Leu56Phe
ENST00000541157.5:n.332G>C
NM_005590.3:c.168G>C NP_005581.2:p.Leu56Phe
NM_005591.3:c.168G>C , LRG_85t1:c.168G>C NP_005582.1:p.Leu56Phe
XM_006718842.2:c.168G>C XP_006718905.1:p.Leu56Phe
XM_011542837.1:c.168G>C XP_011541139.1:p.Leu56Phe
XR_947828.1:n.464G>C
NM_001330347.1:c.168G>C NP_001317276.1:p.Leu56Phe
XM_005274008.3:c.-297G>C XP_005274065.1:n.-297G>C
XM_006718842.3:c.168G>C XP_006718905.1:p.Leu56Phe
XM_011542837.2:c.168G>C XP_011541139.1:p.Leu56Phe
XM_017017772.1:c.168G>C XP_016873261.1:p.Leu56Phe
XR_947828.2:n.464G>C
NM_001330347.2:c.168G>C NP_001317276.1:p.Leu56Phe
NM_005590.4:c.168G>C NP_005581.2:p.Leu56Phe
NM_005591.4:c.168G>C MANE Select NP_005582.1:p.Leu56Phe