Canonical Allele Identifier: CA382374201

Gene: MRE11

Linked Data

• dbSNP Id: rs1228681022
• gnomAD v2: 11-94203647-C-G
• gnomAD v4: 11-94470481-C-G
• MyVariant Identifiers: chr11:g.94203647C>G (hg19) ; chr11:g.94470481C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94470481C>G , CM000673.2:g.94470481C>G	GRCh38
NC_000011.9:g.94203647C>G , CM000673.1:g.94203647C>G	GRCh37
NC_000011.8:g.93843295C>G	NCBI36
NG_007261.1:g.28394G>C , LRG_85:g.28394G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1007G>C MANE Select	ENSP00000325863.4:p.Cys336Ser
ENST00000323929.7:c.1007G>C	ENSP00000325863.3:p.Cys336Ser
ENST00000323977.7:c.1007G>C	ENSP00000326094.3:p.Cys336Ser
ENST00000393241.8:c.1007G>C	ENSP00000376933.4:p.Cys336Ser
ENST00000407439.7:c.1016G>C	ENSP00000385614.3:p.Cys339Ser
NM_005590.3:c.1007G>C	NP_005581.2:p.Cys336Ser
NM_005591.3:c.1007G>C , LRG_85t1:c.1007G>C	NP_005582.1:p.Cys336Ser
XM_005274008.2:c.539G>C	XP_005274065.1:p.Cys180Ser
XM_006718842.2:c.1007G>C	XP_006718905.1:p.Cys336Ser
XM_011542837.1:c.1007G>C	XP_011541139.1:p.Cys336Ser
XR_947828.1:n.1303G>C
NM_001330347.1:c.1007G>C	NP_001317276.1:p.Cys336Ser
XM_005274008.3:c.539G>C	XP_005274065.1:p.Cys180Ser
XM_006718842.3:c.1007G>C	XP_006718905.1:p.Cys336Ser
XM_011542837.2:c.1007G>C	XP_011541139.1:p.Cys336Ser
XM_017017772.1:c.1007G>C	XP_016873261.1:p.Cys336Ser
XR_947828.2:n.1303G>C
NM_001330347.2:c.1007G>C	NP_001317276.1:p.Cys336Ser
NM_005590.4:c.1007G>C	NP_005581.2:p.Cys336Ser
NM_005591.4:c.1007G>C MANE Select	NP_005582.1:p.Cys336Ser