Canonical Allele Identifier: CA166180

Gene: MRE11

Linked Data

• ClinVar Variation Id: 141705
• ClinVar RCV Id: RCV000130321 ; RCV002228492
• dbSNP Id: rs587781951
• gnomAD v4: 11-94445885-C-A
• MyVariant Identifiers: chr11:g.94179051C>A (hg19) ; chr11:g.94445885C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445885C>A , CM000673.2:g.94445885C>A	GRCh38
NC_000011.9:g.94179051C>A , CM000673.1:g.94179051C>A	GRCh37
NC_000011.8:g.93818699C>A	NCBI36
NG_007261.1:g.52990G>T , LRG_85:g.52990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1792G>T MANE Select	ENSP00000325863.4:p.Gly598Cys
ENST00000323929.7:c.1792G>T	ENSP00000325863.3:p.Gly598Cys
ENST00000323977.7:c.1783+1334G>T	ENSP00000326094.3:n.1783+1334G>T
ENST00000393241.8:c.1789G>T	ENSP00000376933.4:p.Gly597Cys
ENST00000407439.7:c.1801G>T	ENSP00000385614.3:p.Gly601Cys
ENST00000535120.1:n.88G>T
NM_005590.3:c.1783+1334G>T	NP_005581.2:n.1783+1334G>T
NM_005591.3:c.1792G>T , LRG_85t1:c.1792G>T	NP_005582.1:p.Gly598Cys
XM_005274008.2:c.1324G>T	XP_005274065.1:p.Gly442Cys
XM_006718842.2:c.1789G>T	XP_006718905.1:p.Gly597Cys
XM_011542837.1:c.1792G>T	XP_011541139.1:p.Gly598Cys
XR_947828.1:n.2088G>T
NM_001330347.1:c.1789G>T	NP_001317276.1:p.Gly597Cys
XM_005274008.3:c.1324G>T	XP_005274065.1:p.Gly442Cys
XM_006718842.3:c.1789G>T	XP_006718905.1:p.Gly597Cys
XM_011542837.2:c.1792G>T	XP_011541139.1:p.Gly598Cys
XM_017017772.1:c.1792G>T	XP_016873261.1:p.Gly598Cys
XR_947828.2:n.2088G>T
NM_001330347.2:c.1789G>T	NP_001317276.1:p.Gly597Cys
NM_005590.4:c.1783+1334G>T	NP_005581.2:n.1783+1334G>T
NM_005591.4:c.1792G>T MANE Select	NP_005582.1:p.Gly598Cys