Canonical Allele Identifier: CA6234986

Gene: MRE11

Linked Data

• ClinVar Variation Id: 3224842
• ClinVar RCV Id: RCV004521532
• dbSNP Id: rs147342285
• ExAC: 11:94179046 C / T
• gnomAD v2: 11-94179046-C-T
• gnomAD v3: 11-94445880-C-T
• gnomAD v4: 11-94445880-C-T
• MyVariant Identifiers: chr11:g.94179046C>T (hg19) ; chr11:g.94445880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445880C>T , CM000673.2:g.94445880C>T	GRCh38
NC_000011.9:g.94179046C>T , CM000673.1:g.94179046C>T	GRCh37
NC_000011.8:g.93818694C>T	NCBI36
NG_007261.1:g.52995G>A , LRG_85:g.52995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1797G>A MANE Select	ENSP00000325863.4:p.Leu599=
ENST00000323929.7:c.1797G>A	ENSP00000325863.3:p.Leu599=
ENST00000323977.7:c.1783+1339G>A	ENSP00000326094.3:n.1783+1339G>A
ENST00000393241.8:c.1794G>A	ENSP00000376933.4:p.Leu598=
ENST00000407439.7:c.1806G>A	ENSP00000385614.3:p.Leu602=
ENST00000535120.1:n.93G>A
NM_005590.3:c.1783+1339G>A	NP_005581.2:n.1783+1339G>A
NM_005591.3:c.1797G>A , LRG_85t1:c.1797G>A	NP_005582.1:p.Leu599=
XM_005274008.2:c.1329G>A	XP_005274065.1:p.Leu443=
XM_006718842.2:c.1794G>A	XP_006718905.1:p.Leu598=
XM_011542837.1:c.1797G>A	XP_011541139.1:p.Leu599=
XR_947828.1:n.2093G>A
NM_001330347.1:c.1794G>A	NP_001317276.1:p.Leu598=
XM_005274008.3:c.1329G>A	XP_005274065.1:p.Leu443=
XM_006718842.3:c.1794G>A	XP_006718905.1:p.Leu598=
XM_011542837.2:c.1797G>A	XP_011541139.1:p.Leu599=
XM_017017772.1:c.1797G>A	XP_016873261.1:p.Leu599=
XR_947828.2:n.2093G>A
NM_001330347.2:c.1794G>A	NP_001317276.1:p.Leu598=
NM_005590.4:c.1783+1339G>A	NP_005581.2:n.1783+1339G>A
NM_005591.4:c.1797G>A MANE Select	NP_005582.1:p.Leu599=