Canonical Allele Identifier: CA382366243

Gene: MRE11

Linked Data

• ClinVar Variation Id: 2447001
• ClinVar RCV Id: RCV003164975
• MyVariant Identifiers: chr11:g.94178984A>G (hg19) ; chr11:g.94445818A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445818A>G , CM000673.2:g.94445818A>G	GRCh38
NC_000011.9:g.94178984A>G , CM000673.1:g.94178984A>G	GRCh37
NC_000011.8:g.93818632A>G	NCBI36
NG_007261.1:g.53057T>C , LRG_85:g.53057T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1859T>C MANE Select	ENSP00000325863.4:p.Ile620Thr
ENST00000323929.7:c.1859T>C	ENSP00000325863.3:p.Ile620Thr
ENST00000323977.7:c.1783+1401T>C	ENSP00000326094.3:n.1783+1401T>C
ENST00000393241.8:c.1856T>C	ENSP00000376933.4:p.Ile619Thr
ENST00000407439.7:c.1868T>C	ENSP00000385614.3:p.Ile623Thr
ENST00000535120.1:n.155T>C
NM_005590.3:c.1783+1401T>C	NP_005581.2:n.1783+1401T>C
NM_005591.3:c.1859T>C , LRG_85t1:c.1859T>C	NP_005582.1:p.Ile620Thr
XM_005274008.2:c.1391T>C	XP_005274065.1:p.Ile464Thr
XM_006718842.2:c.1856T>C	XP_006718905.1:p.Ile619Thr
XM_011542837.1:c.1859T>C	XP_011541139.1:p.Ile620Thr
XR_947828.1:n.2155T>C
NM_001330347.1:c.1856T>C	NP_001317276.1:p.Ile619Thr
XM_005274008.3:c.1391T>C	XP_005274065.1:p.Ile464Thr
XM_006718842.3:c.1856T>C	XP_006718905.1:p.Ile619Thr
XM_011542837.2:c.1859T>C	XP_011541139.1:p.Ile620Thr
XM_017017772.1:c.1859T>C	XP_016873261.1:p.Ile620Thr
XR_947828.2:n.2155T>C
NM_001330347.2:c.1856T>C	NP_001317276.1:p.Ile619Thr
NM_005590.4:c.1783+1401T>C	NP_005581.2:n.1783+1401T>C
NM_005591.4:c.1859T>C MANE Select	NP_005582.1:p.Ile620Thr