Canonical Allele Identifier: CA476282682

Gene: MRE11 MIR548L

Linked Data

• dbSNP Id: rs11020790
• gnomAD v2: 11-94199710-C-A
• gnomAD v4: 11-94466544-C-A
• MyVariant Identifiers: chr11:g.94199710C>A (hg19) ; chr11:g.94466544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94466544C>A , CM000673.2:g.94466544C>A	GRCh38
NC_000011.9:g.94199710C>A , CM000673.1:g.94199710C>A	GRCh37
NC_000011.8:g.93839358C>A	NCBI36
NG_007261.1:g.32331G>T , LRG_85:g.32331G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1098+1269G>T (MRE11) MANE Select	ENSP00000325863.4:n.1098+1269G>T
ENST00000323929.7:c.1098+1269G>T (MRE11)	ENSP00000325863.3:n.1098+1269G>T
ENST00000323977.7:c.1098+1269G>T (MRE11)	ENSP00000326094.3:n.1098+1269G>T
ENST00000393241.8:c.1098+1269G>T (MRE11)	ENSP00000376933.4:n.1098+1269G>T
ENST00000407439.7:c.1107+1269G>T (MRE11)	ENSP00000385614.3:n.1107+1269G>T
NM_005590.3:c.1098+1269G>T (MRE11)	NP_005581.2:n.1098+1269G>T
NM_005591.3:c.1098+1269G>T , LRG_85t1:c.1098+1269G>T (MRE11)	NP_005582.1:n.1098+1269G>T
NR_031630.1:n.37G>T (MIR548L)
XM_005274008.2:c.630+1269G>T (MRE11)	XP_005274065.1:n.630+1269G>T
XM_006718842.2:c.1098+1269G>T (MRE11)	XP_006718905.1:n.1098+1269G>T
XM_011542837.1:c.1098+1269G>T (MRE11)	XP_011541139.1:n.1098+1269G>T
XR_947828.1:n.1394+1269G>T (MRE11)
NM_001330347.1:c.1098+1269G>T (MRE11)	NP_001317276.1:n.1098+1269G>T
XM_005274008.3:c.630+1269G>T (MRE11)	XP_005274065.1:n.630+1269G>T
XM_006718842.3:c.1098+1269G>T (MRE11)	XP_006718905.1:n.1098+1269G>T
XM_011542837.2:c.1098+1269G>T (MRE11)	XP_011541139.1:n.1098+1269G>T
XM_017017772.1:c.1098+1269G>T (MRE11)	XP_016873261.1:n.1098+1269G>T
XR_947828.2:n.1394+1269G>T (MRE11)
NM_001330347.2:c.1098+1269G>T (MRE11)	NP_001317276.1:n.1098+1269G>T
NM_005590.4:c.1098+1269G>T (MRE11)	NP_005581.2:n.1098+1269G>T
NM_005591.4:c.1098+1269G>T (MRE11) MANE Select	NP_005582.1:n.1098+1269G>T