Canonical Allele Identifier: CA382366851

Gene: MRE11

Linked Data

• MyVariant Identifiers: chr11:g.94179047A>C (hg19) ; chr11:g.94445881A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445881A>C , CM000673.2:g.94445881A>C	GRCh38
NC_000011.9:g.94179047A>C , CM000673.1:g.94179047A>C	GRCh37
NC_000011.8:g.93818695A>C	NCBI36
NG_007261.1:g.52994T>G , LRG_85:g.52994T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1796T>G MANE Select	ENSP00000325863.4:p.Leu599Arg
ENST00000323929.7:c.1796T>G	ENSP00000325863.3:p.Leu599Arg
ENST00000323977.7:c.1783+1338T>G	ENSP00000326094.3:n.1783+1338T>G
ENST00000393241.8:c.1793T>G	ENSP00000376933.4:p.Leu598Arg
ENST00000407439.7:c.1805T>G	ENSP00000385614.3:p.Leu602Arg
ENST00000535120.1:n.92T>G
NM_005590.3:c.1783+1338T>G	NP_005581.2:n.1783+1338T>G
NM_005591.3:c.1796T>G , LRG_85t1:c.1796T>G	NP_005582.1:p.Leu599Arg
XM_005274008.2:c.1328T>G	XP_005274065.1:p.Leu443Arg
XM_006718842.2:c.1793T>G	XP_006718905.1:p.Leu598Arg
XM_011542837.1:c.1796T>G	XP_011541139.1:p.Leu599Arg
XR_947828.1:n.2092T>G
NM_001330347.1:c.1793T>G	NP_001317276.1:p.Leu598Arg
XM_005274008.3:c.1328T>G	XP_005274065.1:p.Leu443Arg
XM_006718842.3:c.1793T>G	XP_006718905.1:p.Leu598Arg
XM_011542837.2:c.1796T>G	XP_011541139.1:p.Leu599Arg
XM_017017772.1:c.1796T>G	XP_016873261.1:p.Leu599Arg
XR_947828.2:n.2092T>G
NM_001330347.2:c.1793T>G	NP_001317276.1:p.Leu598Arg
NM_005590.4:c.1783+1338T>G	NP_005581.2:n.1783+1338T>G
NM_005591.4:c.1796T>G MANE Select	NP_005582.1:p.Leu599Arg