Canonical Allele Identifier: CA476287143

Gene: MRE11

Linked Data

• ClinVar Variation Id: 1799923
• ClinVar RCV Id: RCV002460571
• MyVariant Identifiers: chr11:g.94169042A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94435876A>G , CM000673.2:g.94435876A>G	GRCh38
NC_000011.9:g.94169042A>G , CM000673.1:g.94169042A>G	GRCh37
NC_000011.8:g.93808690A>G	NCBI36
NG_007261.1:g.62999T>C , LRG_85:g.62999T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1950T>C MANE Select	ENSP00000325863.4:p.Asp650=
ENST00000323929.7:c.1950T>C	ENSP00000325863.3:p.Asp650=
ENST00000323977.7:c.1866T>C	ENSP00000326094.3:p.Asp622=
ENST00000393241.8:c.1947T>C	ENSP00000376933.4:p.Asp649=
ENST00000407439.7:c.1959T>C	ENSP00000385614.3:p.Asp653=
NM_005590.3:c.1866T>C	NP_005581.2:p.Asp622=
NM_005591.3:c.1950T>C , LRG_85t1:c.1950T>C	NP_005582.1:p.Asp650=
XM_005274008.2:c.1482T>C	XP_005274065.1:p.Asp494=
XM_006718842.2:c.1947T>C	XP_006718905.1:p.Asp649=
XM_011542837.1:c.1950T>C	XP_011541139.1:p.Asp650=
XR_947828.1:n.2246T>C
NM_001330347.1:c.1947T>C	NP_001317276.1:p.Asp649=
XM_005274008.3:c.1482T>C	XP_005274065.1:p.Asp494=
XM_006718842.3:c.1947T>C	XP_006718905.1:p.Asp649=
XM_011542837.2:c.1950T>C	XP_011541139.1:p.Asp650=
XM_017017772.1:c.1950T>C	XP_016873261.1:p.Asp650=
XR_947828.2:n.2246T>C
NM_001330347.2:c.1947T>C	NP_001317276.1:p.Asp649=
NM_005590.4:c.1866T>C	NP_005581.2:p.Asp622=
NM_005591.4:c.1950T>C MANE Select	NP_005582.1:p.Asp650=