Canonical Allele Identifier: CA382374119

Gene: MRE11

Linked Data

• ClinVar Variation Id: 820394
• ClinVar RCV Id: RCV001013803
• dbSNP Id: rs1591640949
• gnomAD v4: 11-94435880-G-A
• MyVariant Identifiers: chr11:g.94169046G>A (hg19) ; chr11:g.94435880G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.94435880G>A , CM000673.2:g.94435880G>A	GRCh38
NC_000011.9:g.94169046G>A , CM000673.1:g.94169046G>A	GRCh37
NC_000011.8:g.93808694G>A	NCBI36
NG_007261.1:g.62995C>T , LRG_85:g.62995C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323929.8:c.1946C>T MANE Select	ENSP00000325863.4:p.Ser649Leu
ENST00000323929.7:c.1946C>T	ENSP00000325863.3:p.Ser649Leu
ENST00000323977.7:c.1862C>T	ENSP00000326094.3:p.Ser621Leu
ENST00000393241.8:c.1943C>T	ENSP00000376933.4:p.Ser648Leu
ENST00000407439.7:c.1955C>T	ENSP00000385614.3:p.Ser652Leu
NM_005590.3:c.1862C>T	NP_005581.2:p.Ser621Leu
NM_005591.3:c.1946C>T , LRG_85t1:c.1946C>T	NP_005582.1:p.Ser649Leu
XM_005274008.2:c.1478C>T	XP_005274065.1:p.Ser493Leu
XM_006718842.2:c.1943C>T	XP_006718905.1:p.Ser648Leu
XM_011542837.1:c.1946C>T	XP_011541139.1:p.Ser649Leu
XR_947828.1:n.2242C>T
NM_001330347.1:c.1943C>T	NP_001317276.1:p.Ser648Leu
XM_005274008.3:c.1478C>T	XP_005274065.1:p.Ser493Leu
XM_006718842.3:c.1943C>T	XP_006718905.1:p.Ser648Leu
XM_011542837.2:c.1946C>T	XP_011541139.1:p.Ser649Leu
XM_017017772.1:c.1946C>T	XP_016873261.1:p.Ser649Leu
XR_947828.2:n.2242C>T
NM_001330347.2:c.1943C>T	NP_001317276.1:p.Ser648Leu
NM_005590.4:c.1862C>T	NP_005581.2:p.Ser621Leu
NM_005591.4:c.1946C>T MANE Select	NP_005582.1:p.Ser649Leu