Canonical Allele Identifier: CA6235265

Gene: MRE11

Linked Data

• ClinVar Variation Id: 823024
• ClinVar RCV Id: RCV001018874
• dbSNP Id: rs770429536
• ExAC: 11:94203744 C / T
• gnomAD v2: 11-94203744-C-T
• gnomAD v3: 11-94470578-C-T
• gnomAD v4: 11-94470578-C-T
• COSMIC: COSM1492695 ; COSM1492696
• MyVariant Identifiers: chr11:g.94203744C>T (hg19) ; chr11:g.94470578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94470578C>T , CM000673.2:g.94470578C>T	GRCh38
NC_000011.9:g.94203744C>T , CM000673.1:g.94203744C>T	GRCh37
NC_000011.8:g.93843392C>T	NCBI36
NG_007261.1:g.28297G>A , LRG_85:g.28297G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.910G>A MANE Select	ENSP00000325863.4:p.Val304Met
ENST00000323929.7:c.910G>A	ENSP00000325863.3:p.Val304Met
ENST00000323977.7:c.910G>A	ENSP00000326094.3:p.Val304Met
ENST00000393241.8:c.910G>A	ENSP00000376933.4:p.Val304Met
ENST00000407439.7:c.919G>A	ENSP00000385614.3:p.Val307Met
NM_005590.3:c.910G>A	NP_005581.2:p.Val304Met
NM_005591.3:c.910G>A , LRG_85t1:c.910G>A	NP_005582.1:p.Val304Met
XM_005274008.2:c.442G>A	XP_005274065.1:p.Val148Met
XM_006718842.2:c.910G>A	XP_006718905.1:p.Val304Met
XM_011542837.1:c.910G>A	XP_011541139.1:p.Val304Met
XR_947828.1:n.1206G>A
NM_001330347.1:c.910G>A	NP_001317276.1:p.Val304Met
XM_005274008.3:c.442G>A	XP_005274065.1:p.Val148Met
XM_006718842.3:c.910G>A	XP_006718905.1:p.Val304Met
XM_011542837.2:c.910G>A	XP_011541139.1:p.Val304Met
XM_017017772.1:c.910G>A	XP_016873261.1:p.Val304Met
XR_947828.2:n.1206G>A
NM_001330347.2:c.910G>A	NP_001317276.1:p.Val304Met
NM_005590.4:c.910G>A	NP_005581.2:p.Val304Met
NM_005591.4:c.910G>A MANE Select	NP_005582.1:p.Val304Met