Canonical Allele Identifier: CA1992450880
Community Standard Title: NM_005591.4(MRE11):c.168G= (p.Leu56=)
Gene: MRE11 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.168G= MANE Select NP_005582.1:p.Leu56=
ENST00000323929.8:c.168G= MANE Select ENSP00000325863.4:p.Leu56=
NM_001330347.1:c.168G= NP_001317276.1:p.Leu56=
NM_001330347.2:c.168G= NP_001317276.1:p.Leu56=
NM_005590.3:c.168G= NP_005581.2:p.Leu56=
NM_005590.4:c.168G= NP_005581.2:p.Leu56=
NM_005591.3:c.168G= , LRG_85t1:c.168G= NP_005582.1:p.Leu56=
ENST00000323929.7:c.168G= ENSP00000325863.3:p.Leu56=
ENST00000323977.7:c.168G= ENSP00000326094.3:p.Leu56=
ENST00000393241.8:c.168G= ENSP00000376933.4:p.Leu56=
ENST00000407439.7:c.177G= ENSP00000385614.3:p.Leu59=
ENST00000536144.1:n.403G=
ENST00000536754.5:c.168G= ENSP00000439511.1:p.Leu56=
ENST00000538923.1:c.168G= ENSP00000442809.1:p.Leu56=
ENST00000540013.5:c.168G= ENSP00000440986.1:p.Leu56=
ENST00000541157.5:n.332G=
XM_005274008.3:c.-297G= XP_005274065.1:n.-297G=
XM_006718842.2:c.168G= XP_006718905.1:p.Leu56=
XM_006718842.3:c.168G= XP_006718905.1:p.Leu56=
XM_011542837.1:c.168G= XP_011541139.1:p.Leu56=
XM_011542837.2:c.168G= XP_011541139.1:p.Leu56=
XM_017017772.1:c.168G= XP_016873261.1:p.Leu56=
XR_947828.1:n.464G=
XR_947828.2:n.464G=