Canonical Allele Identifier: CA382374141

Gene: MRE11

Linked Data

• ClinVar Variation Id: 820366
• ClinVar RCV Id: RCV001013748
• dbSNP Id: rs1555002076
• MyVariant Identifiers: chr11:g.94169055A>C (hg19) ; chr11:g.94435889A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94435889A>C , CM000673.2:g.94435889A>C	GRCh38
NC_000011.9:g.94169055A>C , CM000673.1:g.94169055A>C	GRCh37
NC_000011.8:g.93808703A>C	NCBI36
NG_007261.1:g.62986T>G , LRG_85:g.62986T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323929.8:c.1937T>G MANE Select	ENSP00000325863.4:p.Val646Gly
ENST00000323929.7:c.1937T>G	ENSP00000325863.3:p.Val646Gly
ENST00000323977.7:c.1853T>G	ENSP00000326094.3:p.Val618Gly
ENST00000393241.8:c.1934T>G	ENSP00000376933.4:p.Val645Gly
ENST00000407439.7:c.1946T>G	ENSP00000385614.3:p.Val649Gly
NM_005590.3:c.1853T>G	NP_005581.2:p.Val618Gly
NM_005591.3:c.1937T>G , LRG_85t1:c.1937T>G	NP_005582.1:p.Val646Gly
XM_005274008.2:c.1469T>G	XP_005274065.1:p.Val490Gly
XM_006718842.2:c.1934T>G	XP_006718905.1:p.Val645Gly
XM_011542837.1:c.1937T>G	XP_011541139.1:p.Val646Gly
XR_947828.1:n.2233T>G
NM_001330347.1:c.1934T>G	NP_001317276.1:p.Val645Gly
XM_005274008.3:c.1469T>G	XP_005274065.1:p.Val490Gly
XM_006718842.3:c.1934T>G	XP_006718905.1:p.Val645Gly
XM_011542837.2:c.1937T>G	XP_011541139.1:p.Val646Gly
XM_017017772.1:c.1937T>G	XP_016873261.1:p.Val646Gly
XR_947828.2:n.2233T>G
NM_001330347.2:c.1934T>G	NP_001317276.1:p.Val645Gly
NM_005590.4:c.1853T>G	NP_005581.2:p.Val618Gly
NM_005591.4:c.1937T>G MANE Select	NP_005582.1:p.Val646Gly