Canonical Allele Identifier: CA331846

Gene: MRE11

Linked Data

• ClinVar Variation Id: 127983
• ClinVar RCV Id: RCV000115919 ; RCV000212559 ; RCV000400887 ; RCV000656867 ; RCV000791435
• dbSNP Id: rs142996063
• ExAC: 11:94211916 C / T
• gnomAD v2: 11-94211916-C-T
• gnomAD v3: 11-94478750-C-T
• gnomAD v4: 11-94478750-C-T
• MyVariant Identifiers: chr11:g.94211916C>T (hg19) ; chr11:g.94478750C>T (hg38)
• PubMed: PMID:24549055 ; PMID:25452441 ; PMID:25503501 ; PMID:26534844 ; PMID:27498913

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94478750C>T , CM000673.2:g.94478750C>T	GRCh38
NC_000011.9:g.94211916C>T , CM000673.1:g.94211916C>T	GRCh37
NC_000011.8:g.93851564C>T	NCBI36
NG_007261.1:g.20125G>A , LRG_85:g.20125G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.529G>A MANE Select	ENSP00000325863.4:p.Ala177Thr
ENST00000323929.7:c.529G>A	ENSP00000325863.3:p.Ala177Thr
ENST00000323977.7:c.529G>A	ENSP00000326094.3:p.Ala177Thr
ENST00000393241.8:c.529G>A	ENSP00000376933.4:p.Ala177Thr
ENST00000407439.7:c.538G>A	ENSP00000385614.3:p.Ala180Thr
ENST00000540013.5:c.529G>A	ENSP00000440986.1:p.Ala177Thr
NM_005590.3:c.529G>A	NP_005581.2:p.Ala177Thr
NM_005591.3:c.529G>A , LRG_85t1:c.529G>A	NP_005582.1:p.Ala177Thr
XM_005274008.2:c.61G>A	XP_005274065.1:p.Ala21Thr
XM_006718842.2:c.529G>A	XP_006718905.1:p.Ala177Thr
XM_011542837.1:c.529G>A	XP_011541139.1:p.Ala177Thr
XR_947828.1:n.825G>A
NM_001330347.1:c.529G>A	NP_001317276.1:p.Ala177Thr
XM_005274008.3:c.61G>A	XP_005274065.1:p.Ala21Thr
XM_006718842.3:c.529G>A	XP_006718905.1:p.Ala177Thr
XM_011542837.2:c.529G>A	XP_011541139.1:p.Ala177Thr
XM_017017772.1:c.529G>A	XP_016873261.1:p.Ala177Thr
XR_947828.2:n.825G>A
NM_001330347.2:c.529G>A	NP_001317276.1:p.Ala177Thr
NM_005590.4:c.529G>A	NP_005581.2:p.Ala177Thr
NM_005591.4:c.529G>A MANE Select	NP_005582.1:p.Ala177Thr