Canonical Allele Identifier: CA408329842

Gene: MGME1 OVOL2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.17989975G>C , CM000682.2:g.17989975G>C	GRCh38
NC_000020.10:g.17970618G>C , CM000682.1:g.17970618G>C	GRCh37
NC_000020.9:g.17918618G>C	NCBI36
NG_042236.1:g.26085G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052865.4:c.901G>C (MGME1) MANE Select	NP_443097.1:p.Gly301Arg
ENST00000377710.10:c.901G>C (MGME1) MANE Select	ENSP00000366939.5:p.Gly301Arg
NM_001310338.1:c.946G>C (MGME1)	NP_001297267.1:p.Gly316Arg
NM_001310338.2:c.946G>C (MGME1)	NP_001297267.1:p.Gly316Arg
NM_001310339.1:c.548G>C (MGME1)	NP_001297268.1:p.Trp183Ser
NM_001310339.2:c.548G>C (MGME1)	NP_001297268.1:p.Trp183Ser
NM_001363738.1:c.661G>C (MGME1)	NP_001350667.1:p.Gly221Arg
NM_001363738.2:c.661G>C (MGME1)	NP_001350667.1:p.Gly221Arg
NM_052865.2:c.901G>C (MGME1)	NP_443097.1:p.Gly301Arg
NM_052865.3:c.901G>C (MGME1)	NP_443097.1:p.Gly301Arg
ENST00000377704.4:c.548G>C (MGME1)	ENSP00000366933.4:p.Trp183Ser
ENST00000377709.1:c.661G>C (MGME1)	ENSP00000366938.1:p.Gly221Arg
ENST00000377710.9:c.901G>C (MGME1)	ENSP00000366939.5:p.Gly301Arg
ENST00000463219.1:n.137G>C (MGME1)
ENST00000467391.1:n.484G>C (MGME1)
ENST00000486776.5:n.491+6586C>G (OVOL2)
XM_005260867.2:c.946G>C (MGME1)	XP_005260924.1:p.Gly316Arg
XM_005260867.3:c.946G>C (MGME1)	XP_005260924.1:p.Gly316Arg
XM_005260870.2:c.*21G>C (MGME1)	XP_005260927.1:n.*21G>C
XM_005260870.4:c.*21G>C (MGME1)	XP_005260927.1:n.*21G>C
XM_006723663.2:c.*21G>C (MGME1)	XP_006723726.1:n.*21G>C
XM_006723663.4:c.*21G>C (MGME1)	XP_006723726.1:n.*21G>C
XM_011529394.1:c.946G>C (MGME1)	XP_011527696.1:p.Gly316Arg
XM_011529395.1:c.661G>C (MGME1)	XP_011527697.1:p.Gly221Arg
XM_017028127.2:c.901G>C (MGME1)	XP_016883616.1:p.Gly301Arg
XM_017028128.1:c.901G>C (MGME1)	XP_016883617.1:p.Gly301Arg
XM_024452017.1:c.548G>C (MGME1)	XP_024307785.1:p.Trp183Ser