Canonical Allele Identifier: CA382375518

Gene: MRE11

Linked Data

• ClinVar Variation Id: 481775
• ClinVar RCV Id: RCV000561002
• dbSNP Id: rs1555013057
• MyVariant Identifiers: chr11:g.94204765G>A (hg19) ; chr11:g.94471599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94471599G>A , CM000673.2:g.94471599G>A	GRCh38
NC_000011.9:g.94204765G>A , CM000673.1:g.94204765G>A	GRCh37
NC_000011.8:g.93844413G>A	NCBI36
NG_007261.1:g.27276C>T , LRG_85:g.27276C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.820C>T MANE Select	ENSP00000325863.4:p.Leu274Phe
ENST00000323929.7:c.820C>T	ENSP00000325863.3:p.Leu274Phe
ENST00000323977.7:c.820C>T	ENSP00000326094.3:p.Leu274Phe
ENST00000393241.8:c.820C>T	ENSP00000376933.4:p.Leu274Phe
ENST00000407439.7:c.829C>T	ENSP00000385614.3:p.Leu277Phe
NM_005590.3:c.820C>T	NP_005581.2:p.Leu274Phe
NM_005591.3:c.820C>T , LRG_85t1:c.820C>T	NP_005582.1:p.Leu274Phe
XM_005274008.2:c.352C>T	XP_005274065.1:p.Leu118Phe
XM_006718842.2:c.820C>T	XP_006718905.1:p.Leu274Phe
XM_011542837.1:c.820C>T	XP_011541139.1:p.Leu274Phe
XR_947828.1:n.1116C>T
NM_001330347.1:c.820C>T	NP_001317276.1:p.Leu274Phe
XM_005274008.3:c.352C>T	XP_005274065.1:p.Leu118Phe
XM_006718842.3:c.820C>T	XP_006718905.1:p.Leu274Phe
XM_011542837.2:c.820C>T	XP_011541139.1:p.Leu274Phe
XM_017017772.1:c.820C>T	XP_016873261.1:p.Leu274Phe
XR_947828.2:n.1116C>T
NM_001330347.2:c.820C>T	NP_001317276.1:p.Leu274Phe
NM_005590.4:c.820C>T	NP_005581.2:p.Leu274Phe
NM_005591.4:c.820C>T MANE Select	NP_005582.1:p.Leu274Phe