Canonical Allele Identifier: CA226532683

Gene: MRE11

Linked Data

• ClinVar Variation Id: 825902
• ClinVar RCV Id: RCV001024418 ; RCV002236257
• dbSNP Id: rs148584947
• gnomAD v4: 11-94476379-T-C
• MyVariant Identifiers: chr11:g.94209545T>C (hg19) ; chr11:g.94476379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94476379T>C , CM000673.2:g.94476379T>C	GRCh38
NC_000011.9:g.94209545T>C , CM000673.1:g.94209545T>C	GRCh37
NC_000011.8:g.93849193T>C	NCBI36
NG_007261.1:g.22496A>G , LRG_85:g.22496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.569A>G MANE Select	ENSP00000325863.4:p.Tyr190Cys
ENST00000323929.7:c.569A>G	ENSP00000325863.3:p.Tyr190Cys
ENST00000323977.7:c.569A>G	ENSP00000326094.3:p.Tyr190Cys
ENST00000393241.8:c.569A>G	ENSP00000376933.4:p.Tyr190Cys
ENST00000407439.7:c.578A>G	ENSP00000385614.3:p.Tyr193Cys
ENST00000540013.5:c.569A>G	ENSP00000440986.1:p.Tyr190Cys
NM_005590.3:c.569A>G	NP_005581.2:p.Tyr190Cys
NM_005591.3:c.569A>G , LRG_85t1:c.569A>G	NP_005582.1:p.Tyr190Cys
XM_005274008.2:c.101A>G	XP_005274065.1:p.Tyr34Cys
XM_006718842.2:c.569A>G	XP_006718905.1:p.Tyr190Cys
XM_011542837.1:c.569A>G	XP_011541139.1:p.Tyr190Cys
XR_947828.1:n.865A>G
NM_001330347.1:c.569A>G	NP_001317276.1:p.Tyr190Cys
XM_005274008.3:c.101A>G	XP_005274065.1:p.Tyr34Cys
XM_006718842.3:c.569A>G	XP_006718905.1:p.Tyr190Cys
XM_011542837.2:c.569A>G	XP_011541139.1:p.Tyr190Cys
XM_017017772.1:c.569A>G	XP_016873261.1:p.Tyr190Cys
XR_947828.2:n.865A>G
NM_001330347.2:c.569A>G	NP_001317276.1:p.Tyr190Cys
NM_005590.4:c.569A>G	NP_005581.2:p.Tyr190Cys
NM_005591.4:c.569A>G MANE Select	NP_005582.1:p.Tyr190Cys