Canonical Allele Identifier: CA382376921

Gene: MRE11

Linked Data

• ClinVar Variation Id: 937427
• ClinVar RCV Id: RCV001206432
• dbSNP Id: rs1946855902
• MyVariant Identifiers: chr11:g.94209533A>G (hg19) ; chr11:g.94476367A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94476367A>G , CM000673.2:g.94476367A>G	GRCh38
NC_000011.9:g.94209533A>G , CM000673.1:g.94209533A>G	GRCh37
NC_000011.8:g.93849181A>G	NCBI36
NG_007261.1:g.22508T>C , LRG_85:g.22508T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.581T>C MANE Select	ENSP00000325863.4:p.Val194Ala
ENST00000323929.7:c.581T>C	ENSP00000325863.3:p.Val194Ala
ENST00000323977.7:c.581T>C	ENSP00000326094.3:p.Val194Ala
ENST00000393241.8:c.581T>C	ENSP00000376933.4:p.Val194Ala
ENST00000407439.7:c.590T>C	ENSP00000385614.3:p.Val197Ala
ENST00000540013.5:c.581T>C	ENSP00000440986.1:p.Val194Ala
NM_005590.3:c.581T>C	NP_005581.2:p.Val194Ala
NM_005591.3:c.581T>C , LRG_85t1:c.581T>C	NP_005582.1:p.Val194Ala
XM_005274008.2:c.113T>C	XP_005274065.1:p.Val38Ala
XM_006718842.2:c.581T>C	XP_006718905.1:p.Val194Ala
XM_011542837.1:c.581T>C	XP_011541139.1:p.Val194Ala
XR_947828.1:n.877T>C
NM_001330347.1:c.581T>C	NP_001317276.1:p.Val194Ala
XM_005274008.3:c.113T>C	XP_005274065.1:p.Val38Ala
XM_006718842.3:c.581T>C	XP_006718905.1:p.Val194Ala
XM_011542837.2:c.581T>C	XP_011541139.1:p.Val194Ala
XM_017017772.1:c.581T>C	XP_016873261.1:p.Val194Ala
XR_947828.2:n.877T>C
NM_001330347.2:c.581T>C	NP_001317276.1:p.Val194Ala
NM_005590.4:c.581T>C	NP_005581.2:p.Val194Ala
NM_005591.4:c.581T>C MANE Select	NP_005582.1:p.Val194Ala