Canonical Allele Identifier: CA382372769

Gene: MRE11

Linked Data

• ClinVar Variation Id: 466429
• ClinVar RCV Id: RCV001010221 ; RCV002232295
• dbSNP Id: rs1555010863
• MyVariant Identifiers: chr11:g.94197317A>G (hg19) ; chr11:g.94464151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94464151A>G , CM000673.2:g.94464151A>G	GRCh38
NC_000011.9:g.94197317A>G , CM000673.1:g.94197317A>G	GRCh37
NC_000011.8:g.93836965A>G	NCBI36
NG_007261.1:g.34724T>C , LRG_85:g.34724T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1187T>C MANE Select	ENSP00000325863.4:p.Ile396Thr
ENST00000323929.7:c.1187T>C	ENSP00000325863.3:p.Ile396Thr
ENST00000323977.7:c.1187T>C	ENSP00000326094.3:p.Ile396Thr
ENST00000393241.8:c.1187T>C	ENSP00000376933.4:p.Ile396Thr
ENST00000407439.7:c.1196T>C	ENSP00000385614.3:p.Ile399Thr
NM_005590.3:c.1187T>C	NP_005581.2:p.Ile396Thr
NM_005591.3:c.1187T>C , LRG_85t1:c.1187T>C	NP_005582.1:p.Ile396Thr
XM_005274008.2:c.719T>C	XP_005274065.1:p.Ile240Thr
XM_006718842.2:c.1187T>C	XP_006718905.1:p.Ile396Thr
XM_011542837.1:c.1187T>C	XP_011541139.1:p.Ile396Thr
XR_947828.1:n.1483T>C
NM_001330347.1:c.1187T>C	NP_001317276.1:p.Ile396Thr
XM_005274008.3:c.719T>C	XP_005274065.1:p.Ile240Thr
XM_006718842.3:c.1187T>C	XP_006718905.1:p.Ile396Thr
XM_011542837.2:c.1187T>C	XP_011541139.1:p.Ile396Thr
XM_017017772.1:c.1187T>C	XP_016873261.1:p.Ile396Thr
XR_947828.2:n.1483T>C
NM_001330347.2:c.1187T>C	NP_001317276.1:p.Ile396Thr
NM_005590.4:c.1187T>C	NP_005581.2:p.Ile396Thr
NM_005591.4:c.1187T>C MANE Select	NP_005582.1:p.Ile396Thr