Canonical Allele Identifier: CA331827

Gene: MRE11

Linked Data

• ClinVar Variation Id: 127969
• ClinVar RCV Id: RCV000115903 ; RCV000212567 ; RCV000765029 ; RCV000791404
• dbSNP Id: rs587780134
• ExAC: 11:94197341 C / T
• gnomAD v2: 11-94197341-C-T
• gnomAD v3: 11-94464175-C-T
• gnomAD v4: 11-94464175-C-T
• MyVariant Identifiers: chr11:g.94197341C>T (hg19) ; chr11:g.94464175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94464175C>T , CM000673.2:g.94464175C>T	GRCh38
NC_000011.9:g.94197341C>T , CM000673.1:g.94197341C>T	GRCh37
NC_000011.8:g.93836989C>T	NCBI36
NG_007261.1:g.34700G>A , LRG_85:g.34700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1163G>A MANE Select	ENSP00000325863.4:p.Arg388Gln
ENST00000323929.7:c.1163G>A	ENSP00000325863.3:p.Arg388Gln
ENST00000323977.7:c.1163G>A	ENSP00000326094.3:p.Arg388Gln
ENST00000393241.8:c.1163G>A	ENSP00000376933.4:p.Arg388Gln
ENST00000407439.7:c.1172G>A	ENSP00000385614.3:p.Arg391Gln
NM_005590.3:c.1163G>A	NP_005581.2:p.Arg388Gln
NM_005591.3:c.1163G>A , LRG_85t1:c.1163G>A	NP_005582.1:p.Arg388Gln
XM_005274008.2:c.695G>A	XP_005274065.1:p.Arg232Gln
XM_006718842.2:c.1163G>A	XP_006718905.1:p.Arg388Gln
XM_011542837.1:c.1163G>A	XP_011541139.1:p.Arg388Gln
XR_947828.1:n.1459G>A
NM_001330347.1:c.1163G>A	NP_001317276.1:p.Arg388Gln
XM_005274008.3:c.695G>A	XP_005274065.1:p.Arg232Gln
XM_006718842.3:c.1163G>A	XP_006718905.1:p.Arg388Gln
XM_011542837.2:c.1163G>A	XP_011541139.1:p.Arg388Gln
XM_017017772.1:c.1163G>A	XP_016873261.1:p.Arg388Gln
XR_947828.2:n.1459G>A
NM_001330347.2:c.1163G>A	NP_001317276.1:p.Arg388Gln
NM_005590.4:c.1163G>A	NP_005581.2:p.Arg388Gln
NM_005591.4:c.1163G>A MANE Select	NP_005582.1:p.Arg388Gln