Canonical Allele Identifier: CA333213

Gene: MRE11

Linked Data

• ClinVar Variation Id: 141544
• ClinVar RCV Id: RCV000130116 ; RCV000248684 ; RCV000524522 ; RCV001112605 ; RCV002225429
• dbSNP Id: rs576878377
• ExAC: 11:94180388 T / C
• gnomAD v2: 11-94180388-T-C
• gnomAD v3: 11-94447222-T-C
• gnomAD v4: 11-94447222-T-C
• MyVariant Identifiers: chr11:g.94180388T>C (hg19) ; chr11:g.94447222T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94447222T>C , CM000673.2:g.94447222T>C	GRCh38
NC_000011.9:g.94180388T>C , CM000673.1:g.94180388T>C	GRCh37
NC_000011.8:g.93820036T>C	NCBI36
NG_007261.1:g.51653A>G , LRG_85:g.51653A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1780A>G MANE Select	ENSP00000325863.4:p.Arg594Gly
ENST00000323929.7:c.1780A>G	ENSP00000325863.3:p.Arg594Gly
ENST00000323977.7:c.1780A>G	ENSP00000326094.3:p.Arg594Gly
ENST00000393241.8:c.1780A>G	ENSP00000376933.4:p.Arg594Gly
ENST00000407439.7:c.1789A>G	ENSP00000385614.3:p.Arg597Gly
ENST00000535120.1:n.79A>G
NM_005590.3:c.1780A>G	NP_005581.2:p.Arg594Gly
NM_005591.3:c.1780A>G , LRG_85t1:c.1780A>G	NP_005582.1:p.Arg594Gly
XM_005274008.2:c.1312A>G	XP_005274065.1:p.Arg438Gly
XM_006718842.2:c.1780A>G	XP_006718905.1:p.Arg594Gly
XM_011542837.1:c.1780A>G	XP_011541139.1:p.Arg594Gly
XR_947828.1:n.2076A>G
NM_001330347.1:c.1780A>G	NP_001317276.1:p.Arg594Gly
XM_005274008.3:c.1312A>G	XP_005274065.1:p.Arg438Gly
XM_006718842.3:c.1780A>G	XP_006718905.1:p.Arg594Gly
XM_011542837.2:c.1780A>G	XP_011541139.1:p.Arg594Gly
XM_017017772.1:c.1780A>G	XP_016873261.1:p.Arg594Gly
XR_947828.2:n.2076A>G
NM_001330347.2:c.1780A>G	NP_001317276.1:p.Arg594Gly
NM_005590.4:c.1780A>G	NP_005581.2:p.Arg594Gly
NM_005591.4:c.1780A>G MANE Select	NP_005582.1:p.Arg594Gly