Canonical Allele Identifier: CA226523784

Gene: MRE11

Linked Data

• ClinVar Variation Id: 820089
• ClinVar RCV Id: RCV001013189
• dbSNP Id: rs587781951
• MyVariant Identifiers: chr11:g.94179051C>T (hg19) ; chr11:g.94445885C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1792G>A MANE Select	ENSP00000325863.4:p.Gly598Ser
ENST00000323929.7:c.1792G>A	ENSP00000325863.3:p.Gly598Ser
ENST00000323977.7:c.1783+1334G>A	ENSP00000326094.3:n.1783+1334G>A
ENST00000393241.8:c.1789G>A	ENSP00000376933.4:p.Gly597Ser
ENST00000407439.7:c.1801G>A	ENSP00000385614.3:p.Gly601Ser
ENST00000535120.1:n.88G>A
NM_005590.3:c.1783+1334G>A	NP_005581.2:n.1783+1334G>A
NM_005591.3:c.1792G>A , LRG_85t1:c.1792G>A	NP_005582.1:p.Gly598Ser
XM_005274008.2:c.1324G>A	XP_005274065.1:p.Gly442Ser
XM_006718842.2:c.1789G>A	XP_006718905.1:p.Gly597Ser
XM_011542837.1:c.1792G>A	XP_011541139.1:p.Gly598Ser
XR_947828.1:n.2088G>A
NM_001330347.1:c.1789G>A	NP_001317276.1:p.Gly597Ser
XM_005274008.3:c.1324G>A	XP_005274065.1:p.Gly442Ser
XM_006718842.3:c.1789G>A	XP_006718905.1:p.Gly597Ser
XM_011542837.2:c.1792G>A	XP_011541139.1:p.Gly598Ser
XM_017017772.1:c.1792G>A	XP_016873261.1:p.Gly598Ser
XR_947828.2:n.2088G>A
NM_001330347.2:c.1789G>A	NP_001317276.1:p.Gly597Ser
NM_005590.4:c.1783+1334G>A	NP_005581.2:n.1783+1334G>A
NM_005591.4:c.1792G>A MANE Select	NP_005582.1:p.Gly598Ser