Canonical Allele Identifier: CA10579405

Gene: MRE11

Linked Data

• ClinVar Variation Id: 232386
• ClinVar RCV Id: RCV000215255
• dbSNP Id: rs876659732
• MyVariant Identifiers: chr11:g.94209522C>A (hg19) ; chr11:g.94476356C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94476356C>A , CM000673.2:g.94476356C>A	GRCh38
NC_000011.9:g.94209522C>A , CM000673.1:g.94209522C>A	GRCh37
NC_000011.8:g.93849170C>A	NCBI36
NG_007261.1:g.22519G>T , LRG_85:g.22519G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.592G>T MANE Select	ENSP00000325863.4:p.Val198Leu
ENST00000323929.7:c.592G>T	ENSP00000325863.3:p.Val198Leu
ENST00000323977.7:c.592G>T	ENSP00000326094.3:p.Val198Leu
ENST00000393241.8:c.592G>T	ENSP00000376933.4:p.Val198Leu
ENST00000407439.7:c.601G>T	ENSP00000385614.3:p.Val201Leu
ENST00000540013.5:c.592G>T	ENSP00000440986.1:p.Val198Leu
NM_005590.3:c.592G>T	NP_005581.2:p.Val198Leu
NM_005591.3:c.592G>T , LRG_85t1:c.592G>T	NP_005582.1:p.Val198Leu
XM_005274008.2:c.124G>T	XP_005274065.1:p.Val42Leu
XM_006718842.2:c.592G>T	XP_006718905.1:p.Val198Leu
XM_011542837.1:c.592G>T	XP_011541139.1:p.Val198Leu
XR_947828.1:n.888G>T
NM_001330347.1:c.592G>T	NP_001317276.1:p.Val198Leu
XM_005274008.3:c.124G>T	XP_005274065.1:p.Val42Leu
XM_006718842.3:c.592G>T	XP_006718905.1:p.Val198Leu
XM_011542837.2:c.592G>T	XP_011541139.1:p.Val198Leu
XM_017017772.1:c.592G>T	XP_016873261.1:p.Val198Leu
XR_947828.2:n.888G>T
NM_001330347.2:c.592G>T	NP_001317276.1:p.Val198Leu
NM_005590.4:c.592G>T	NP_005581.2:p.Val198Leu
NM_005591.4:c.592G>T MANE Select	NP_005582.1:p.Val198Leu