Canonical Allele Identifier: CA476280082

Gene: MRE11

Linked Data

• ClinVar Variation Id: 2451381
• ClinVar RCV Id: RCV003182397
• MyVariant Identifiers: chr11:g.94179031A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445865A>C , CM000673.2:g.94445865A>C	GRCh38
NC_000011.9:g.94179031A>C , CM000673.1:g.94179031A>C	GRCh37
NC_000011.8:g.93818679A>C	NCBI36
NG_007261.1:g.53010T>G , LRG_85:g.53010T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1812T>G MANE Select	ENSP00000325863.4:p.Arg604=
ENST00000323929.7:c.1812T>G	ENSP00000325863.3:p.Arg604=
ENST00000323977.7:c.1783+1354T>G	ENSP00000326094.3:n.1783+1354T>G
ENST00000393241.8:c.1809T>G	ENSP00000376933.4:p.Arg603=
ENST00000407439.7:c.1821T>G	ENSP00000385614.3:p.Arg607=
ENST00000535120.1:n.108T>G
NM_005590.3:c.1783+1354T>G	NP_005581.2:n.1783+1354T>G
NM_005591.3:c.1812T>G , LRG_85t1:c.1812T>G	NP_005582.1:p.Arg604=
XM_005274008.2:c.1344T>G	XP_005274065.1:p.Arg448=
XM_006718842.2:c.1809T>G	XP_006718905.1:p.Arg603=
XM_011542837.1:c.1812T>G	XP_011541139.1:p.Arg604=
XR_947828.1:n.2108T>G
NM_001330347.1:c.1809T>G	NP_001317276.1:p.Arg603=
XM_005274008.3:c.1344T>G	XP_005274065.1:p.Arg448=
XM_006718842.3:c.1809T>G	XP_006718905.1:p.Arg603=
XM_011542837.2:c.1812T>G	XP_011541139.1:p.Arg604=
XM_017017772.1:c.1812T>G	XP_016873261.1:p.Arg604=
XR_947828.2:n.2108T>G
NM_001330347.2:c.1809T>G	NP_001317276.1:p.Arg603=
NM_005590.4:c.1783+1354T>G	NP_005581.2:n.1783+1354T>G
NM_005591.4:c.1812T>G MANE Select	NP_005582.1:p.Arg604=