Canonical Allele Identifier: CA382372659

Gene: MRE11

Linked Data

• ClinVar Variation Id: 1206035
• ClinVar RCV Id: RCV001573113 ; RCV002463019
• dbSNP Id: rs1205023888
• gnomAD v2: 11-94197288-C-T
• gnomAD v3: 11-94464122-C-T
• gnomAD v4: 11-94464122-C-T
• COSMIC: COSM6307249 ; COSM6307250
• MyVariant Identifiers: chr11:g.94197288C>T (hg19) ; chr11:g.94464122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94464122C>T , CM000673.2:g.94464122C>T	GRCh38
NC_000011.9:g.94197288C>T , CM000673.1:g.94197288C>T	GRCh37
NC_000011.8:g.93836936C>T	NCBI36
NG_007261.1:g.34753G>A , LRG_85:g.34753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1216G>A MANE Select	ENSP00000325863.4:p.Glu406Lys
ENST00000323929.7:c.1216G>A	ENSP00000325863.3:p.Glu406Lys
ENST00000323977.7:c.1216G>A	ENSP00000326094.3:p.Glu406Lys
ENST00000393241.8:c.1216G>A	ENSP00000376933.4:p.Glu406Lys
ENST00000407439.7:c.1225G>A	ENSP00000385614.3:p.Glu409Lys
NM_005590.3:c.1216G>A	NP_005581.2:p.Glu406Lys
NM_005591.3:c.1216G>A , LRG_85t1:c.1216G>A	NP_005582.1:p.Glu406Lys
XM_005274008.2:c.748G>A	XP_005274065.1:p.Glu250Lys
XM_006718842.2:c.1216G>A	XP_006718905.1:p.Glu406Lys
XM_011542837.1:c.1216G>A	XP_011541139.1:p.Glu406Lys
XR_947828.1:n.1512G>A
NM_001330347.1:c.1216G>A	NP_001317276.1:p.Glu406Lys
XM_005274008.3:c.748G>A	XP_005274065.1:p.Glu250Lys
XM_006718842.3:c.1216G>A	XP_006718905.1:p.Glu406Lys
XM_011542837.2:c.1216G>A	XP_011541139.1:p.Glu406Lys
XM_017017772.1:c.1216G>A	XP_016873261.1:p.Glu406Lys
XR_947828.2:n.1512G>A
NM_001330347.2:c.1216G>A	NP_001317276.1:p.Glu406Lys
NM_005590.4:c.1216G>A	NP_005581.2:p.Glu406Lys
NM_005591.4:c.1216G>A MANE Select	NP_005582.1:p.Glu406Lys