Canonical Allele Identifier: CA382366282

Gene: MRE11

Linked Data

• ClinVar Variation Id: 957386
• ClinVar RCV Id: RCV001230355
• dbSNP Id: rs1945911516
• MyVariant Identifiers: chr11:g.94178988A>C (hg19) ; chr11:g.94445822A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94445822A>C , CM000673.2:g.94445822A>C	GRCh38
NC_000011.9:g.94178988A>C , CM000673.1:g.94178988A>C	GRCh37
NC_000011.8:g.93818636A>C	NCBI36
NG_007261.1:g.53053T>G , LRG_85:g.53053T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1855T>G MANE Select	ENSP00000325863.4:p.Ser619Ala
ENST00000323929.7:c.1855T>G	ENSP00000325863.3:p.Ser619Ala
ENST00000323977.7:c.1783+1397T>G	ENSP00000326094.3:n.1783+1397T>G
ENST00000393241.8:c.1852T>G	ENSP00000376933.4:p.Ser618Ala
ENST00000407439.7:c.1864T>G	ENSP00000385614.3:p.Ser622Ala
ENST00000535120.1:n.151T>G
NM_005590.3:c.1783+1397T>G	NP_005581.2:n.1783+1397T>G
NM_005591.3:c.1855T>G , LRG_85t1:c.1855T>G	NP_005582.1:p.Ser619Ala
XM_005274008.2:c.1387T>G	XP_005274065.1:p.Ser463Ala
XM_006718842.2:c.1852T>G	XP_006718905.1:p.Ser618Ala
XM_011542837.1:c.1855T>G	XP_011541139.1:p.Ser619Ala
XR_947828.1:n.2151T>G
NM_001330347.1:c.1852T>G	NP_001317276.1:p.Ser618Ala
XM_005274008.3:c.1387T>G	XP_005274065.1:p.Ser463Ala
XM_006718842.3:c.1852T>G	XP_006718905.1:p.Ser618Ala
XM_011542837.2:c.1855T>G	XP_011541139.1:p.Ser619Ala
XM_017017772.1:c.1855T>G	XP_016873261.1:p.Ser619Ala
XR_947828.2:n.2151T>G
NM_001330347.2:c.1852T>G	NP_001317276.1:p.Ser618Ala
NM_005590.4:c.1783+1397T>G	NP_005581.2:n.1783+1397T>G
NM_005591.4:c.1855T>G MANE Select	NP_005582.1:p.Ser619Ala