Canonical Allele Identifier: CA6235070

Gene: MRE11

Linked Data

• ClinVar Variation Id: 229851
• ClinVar RCV Id: RCV000219982 ; RCV000823379 ; RCV003468984
• dbSNP Id: rs774145193
• ExAC: 11:94192578 T / C
• gnomAD v2: 11-94192578-T-C
• gnomAD v4: 11-94459412-T-C
• MyVariant Identifiers: chr11:g.94192578T>C (hg19) ; chr11:g.94459412T>C (hg38)
• PubMed: PMID:26534844

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94459412T>C , CM000673.2:g.94459412T>C	GRCh38
NC_000011.9:g.94192578T>C , CM000673.1:g.94192578T>C	GRCh37
NC_000011.8:g.93832226T>C	NCBI36
NG_007261.1:g.39463A>G , LRG_85:g.39463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1496A>G MANE Select	ENSP00000325863.4:p.Glu499Gly
ENST00000323929.7:c.1496A>G	ENSP00000325863.3:p.Glu499Gly
ENST00000323977.7:c.1496A>G	ENSP00000326094.3:p.Glu499Gly
ENST00000393241.8:c.1496A>G	ENSP00000376933.4:p.Glu499Gly
ENST00000407439.7:c.1505A>G	ENSP00000385614.3:p.Glu502Gly
NM_005590.3:c.1496A>G	NP_005581.2:p.Glu499Gly
NM_005591.3:c.1496A>G , LRG_85t1:c.1496A>G	NP_005582.1:p.Glu499Gly
XM_005274008.2:c.1028A>G	XP_005274065.1:p.Glu343Gly
XM_006718842.2:c.1496A>G	XP_006718905.1:p.Glu499Gly
XM_011542837.1:c.1496A>G	XP_011541139.1:p.Glu499Gly
XR_947828.1:n.1792A>G
NM_001330347.1:c.1496A>G	NP_001317276.1:p.Glu499Gly
XM_005274008.3:c.1028A>G	XP_005274065.1:p.Glu343Gly
XM_006718842.3:c.1496A>G	XP_006718905.1:p.Glu499Gly
XM_011542837.2:c.1496A>G	XP_011541139.1:p.Glu499Gly
XM_017017772.1:c.1496A>G	XP_016873261.1:p.Glu499Gly
XR_947828.2:n.1792A>G
NM_001330347.2:c.1496A>G	NP_001317276.1:p.Glu499Gly
NM_005590.4:c.1496A>G	NP_005581.2:p.Glu499Gly
NM_005591.4:c.1496A>G MANE Select	NP_005582.1:p.Glu499Gly