Canonical Allele Identifier: CA382368270
Gene: MRE11 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94447288G>C , CM000673.2:g.94447288G>C GRCh38
NC_000011.9:g.94180454G>C , CM000673.1:g.94180454G>C GRCh37
NC_000011.8:g.93820102G>C NCBI36
NG_007261.1:g.51587C>G , LRG_85:g.51587C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323929.8:c.1714C>G MANE Select ENSP00000325863.4:p.Arg572Gly
ENST00000323929.7:c.1714C>G ENSP00000325863.3:p.Arg572Gly
ENST00000323977.7:c.1714C>G ENSP00000326094.3:p.Arg572Gly
ENST00000393241.8:c.1714C>G ENSP00000376933.4:p.Arg572Gly
ENST00000407439.7:c.1723C>G ENSP00000385614.3:p.Arg575Gly
ENST00000535120.1:n.13C>G
NM_005590.3:c.1714C>G NP_005581.2:p.Arg572Gly
NM_005591.3:c.1714C>G , LRG_85t1:c.1714C>G NP_005582.1:p.Arg572Gly
XM_005274008.2:c.1246C>G XP_005274065.1:p.Arg416Gly
XM_006718842.2:c.1714C>G XP_006718905.1:p.Arg572Gly
XM_011542837.1:c.1714C>G XP_011541139.1:p.Arg572Gly
XR_947828.1:n.2010C>G
NM_001330347.1:c.1714C>G NP_001317276.1:p.Arg572Gly
XM_005274008.3:c.1246C>G XP_005274065.1:p.Arg416Gly
XM_006718842.3:c.1714C>G XP_006718905.1:p.Arg572Gly
XM_011542837.2:c.1714C>G XP_011541139.1:p.Arg572Gly
XM_017017772.1:c.1714C>G XP_016873261.1:p.Arg572Gly
XR_947828.2:n.2010C>G
NM_001330347.2:c.1714C>G NP_001317276.1:p.Arg572Gly
NM_005590.4:c.1714C>G NP_005581.2:p.Arg572Gly
NM_005591.4:c.1714C>G MANE Select NP_005582.1:p.Arg572Gly