Canonical Allele Identifier: CA382368629
Community Standard Title: NM_005591.4(MRE11):c.1616C>T (p.Ala539Val)
Gene: MRE11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.94447386G>A , CM000673.2:g.94447386G>A GRCh38
NC_000011.9:g.94180552G>A , CM000673.1:g.94180552G>A GRCh37
NC_000011.8:g.93820200G>A NCBI36
NG_007261.1:g.51489C>T , LRG_85:g.51489C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005591.4:c.1616C>T MANE Select NP_005582.1:p.Ala539Val
ENST00000323929.8:c.1616C>T MANE Select ENSP00000325863.4:p.Ala539Val
NM_001330347.1:c.1616C>T NP_001317276.1:p.Ala539Val
NM_001330347.2:c.1616C>T NP_001317276.1:p.Ala539Val
NM_005590.3:c.1616C>T NP_005581.2:p.Ala539Val
NM_005590.4:c.1616C>T NP_005581.2:p.Ala539Val
NM_005591.3:c.1616C>T , LRG_85t1:c.1616C>T NP_005582.1:p.Ala539Val
ENST00000323929.7:c.1616C>T ENSP00000325863.3:p.Ala539Val
ENST00000323977.7:c.1616C>T ENSP00000326094.3:p.Ala539Val
ENST00000393241.8:c.1616C>T ENSP00000376933.4:p.Ala539Val
ENST00000407439.7:c.1625C>T ENSP00000385614.3:p.Ala542Val
XM_005274008.2:c.1148C>T XP_005274065.1:p.Ala383Val
XM_005274008.3:c.1148C>T XP_005274065.1:p.Ala383Val
XM_006718842.2:c.1616C>T XP_006718905.1:p.Ala539Val
XM_006718842.3:c.1616C>T XP_006718905.1:p.Ala539Val
XM_011542837.1:c.1616C>T XP_011541139.1:p.Ala539Val
XM_011542837.2:c.1616C>T XP_011541139.1:p.Ala539Val
XM_017017772.1:c.1616C>T XP_016873261.1:p.Ala539Val
XR_947828.1:n.1912C>T
XR_947828.2:n.1912C>T