Canonical Allele Identifier: CA165066

Gene: MRE11

Linked Data

• ClinVar Variation Id: 141307
• ClinVar RCV Id: RCV000129776 ; RCV000524511 ; RCV000780433 ; RCV000992323 ; RCV003467120
• dbSNP Id: rs587781646
• ExAC: 11:94197365 C / T
• gnomAD v2: 11-94197365-C-T
• gnomAD v3: 11-94464199-C-T
• gnomAD v4: 11-94464199-C-T
• COSMIC: COSM4703142 ; COSM4703143
• MyVariant Identifiers: chr11:g.94197365C>T (hg19) ; chr11:g.94464199C>T (hg38)
• PubMed: PMID:24556621 ; PMID:26534844

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94464199C>T , CM000673.2:g.94464199C>T	GRCh38
NC_000011.9:g.94197365C>T , CM000673.1:g.94197365C>T	GRCh37
NC_000011.8:g.93837013C>T	NCBI36
NG_007261.1:g.34676G>A , LRG_85:g.34676G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1139G>A MANE Select	ENSP00000325863.4:p.Arg380His
ENST00000323929.7:c.1139G>A	ENSP00000325863.3:p.Arg380His
ENST00000323977.7:c.1139G>A	ENSP00000326094.3:p.Arg380His
ENST00000393241.8:c.1139G>A	ENSP00000376933.4:p.Arg380His
ENST00000407439.7:c.1148G>A	ENSP00000385614.3:p.Arg383His
NM_005590.3:c.1139G>A	NP_005581.2:p.Arg380His
NM_005591.3:c.1139G>A , LRG_85t1:c.1139G>A	NP_005582.1:p.Arg380His
XM_005274008.2:c.671G>A	XP_005274065.1:p.Arg224His
XM_006718842.2:c.1139G>A	XP_006718905.1:p.Arg380His
XM_011542837.1:c.1139G>A	XP_011541139.1:p.Arg380His
XR_947828.1:n.1435G>A
NM_001330347.1:c.1139G>A	NP_001317276.1:p.Arg380His
XM_005274008.3:c.671G>A	XP_005274065.1:p.Arg224His
XM_006718842.3:c.1139G>A	XP_006718905.1:p.Arg380His
XM_011542837.2:c.1139G>A	XP_011541139.1:p.Arg380His
XM_017017772.1:c.1139G>A	XP_016873261.1:p.Arg380His
XR_947828.2:n.1435G>A
NM_001330347.2:c.1139G>A	NP_001317276.1:p.Arg380His
NM_005590.4:c.1139G>A	NP_005581.2:p.Arg380His
NM_005591.4:c.1139G>A MANE Select	NP_005582.1:p.Arg380His