Canonical Allele Identifier: CA355063839

Gene: MECOM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169084949G>T , CM000665.2:g.169084949G>T	GRCh38
NC_000003.11:g.168802737G>T , CM000665.1:g.168802737G>T	GRCh37
NC_000003.10:g.170285431G>T	NCBI36
NG_028279.1:g.583827C>A
NG_028279.2:g.583827C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494292.6:c.3653C>A	ENSP00000417899.1:p.Ala1218Glu
ENST00000651503.2:c.3680C>A MANE Select	ENSP00000498411.1:p.Ala1227Glu
ENST00000264674.7:c.3311C>A	ENSP00000264674.3:p.Ala1104Glu
ENST00000433243.6:c.3119C>A	ENSP00000394302.2:p.Ala1040Glu
ENST00000460814.5:c.*130C>A	ENSP00000420466.1:n.*130C>A
ENST00000464456.5:c.3089C>A	ENSP00000419770.1:p.Ala1030Glu
ENST00000468789.5:c.3116C>A	ENSP00000419995.1:p.Ala1039Glu
ENST00000472280.5:c.3119C>A	ENSP00000420048.1:p.Ala1040Glu
ENST00000494292.5:c.3653C>A	ENSP00000417899.1:p.Ala1218Glu
ENST00000628990.2:c.3116C>A	ENSP00000486104.1:p.Ala1039Glu
NM_001105077.3:c.3311C>A	NP_001098547.3:p.Ala1104Glu
NM_001105078.3:c.3116C>A	NP_001098548.2:p.Ala1039Glu
NM_001163999.1:c.3092C>A	NP_001157471.1:p.Ala1031Glu
NM_001164000.1:c.3089C>A	NP_001157472.1:p.Ala1030Glu
NM_001205194.1:c.3116C>A	NP_001192123.1:p.Ala1039Glu
NM_004991.3:c.3680C>A	NP_004982.2:p.Ala1227Glu
NM_005241.3:c.3116C>A	NP_005232.2:p.Ala1039Glu
XM_005247213.2:c.3683C>A	XP_005247270.1:p.Ala1228Glu
XM_005247214.2:c.3656C>A	XP_005247271.1:p.Ala1219Glu
XM_005247215.2:c.3653C>A	XP_005247272.1:p.Ala1218Glu
XM_005247219.2:c.3119C>A	XP_005247276.1:p.Ala1040Glu
XM_005247220.2:c.3119C>A	XP_005247277.1:p.Ala1040Glu
XM_005247221.2:c.3119C>A	XP_005247278.1:p.Ala1040Glu
XM_005247223.2:c.3116C>A	XP_005247280.1:p.Ala1039Glu
XM_005247224.2:c.2711C>A	XP_005247281.1:p.Ala904Glu
XM_005247225.2:c.2708C>A	XP_005247282.1:p.Ala903Glu
XM_005247226.2:c.2681C>A	XP_005247283.1:p.Ala894Glu
XM_011512546.1:c.3335C>A	XP_011510848.1:p.Ala1112Glu
XM_011512547.1:c.3311C>A	XP_011510849.1:p.Ala1104Glu
XM_011512548.1:c.3311C>A	XP_011510850.1:p.Ala1104Glu
NM_001366466.1:c.3653C>A	NP_001353395.1:p.Ala1218Glu
NM_001366467.1:c.3119C>A	NP_001353396.1:p.Ala1040Glu
NM_001366468.1:c.3119C>A	NP_001353397.1:p.Ala1040Glu
NM_001366469.1:c.3116C>A	NP_001353398.1:p.Ala1039Glu
NM_001366470.1:c.3092C>A	NP_001353399.1:p.Ala1031Glu
NM_001366471.1:c.3089C>A	NP_001353400.1:p.Ala1030Glu
NM_001366472.1:c.3089C>A	NP_001353401.1:p.Ala1030Glu
NM_001366473.1:c.2681C>A	NP_001353402.1:p.Ala894Glu
NM_001366474.1:c.2117C>A	NP_001353403.1:p.Ala706Glu
XM_005247213.3:c.3683C>A	XP_005247270.1:p.Ala1228Glu
XM_005247214.3:c.3656C>A	XP_005247271.1:p.Ala1219Glu
XM_005247224.3:c.2711C>A	XP_005247281.1:p.Ala904Glu
XM_005247225.4:c.2708C>A	XP_005247282.1:p.Ala903Glu
XM_011512546.2:c.3335C>A	XP_011510848.1:p.Ala1112Glu
XM_017005874.1:c.3311C>A	XP_016861363.1:p.Ala1104Glu
XM_017005877.1:c.2684C>A	XP_016861366.1:p.Ala895Glu
NM_001105078.4:c.3116C>A	NP_001098548.2:p.Ala1039Glu
NM_001164000.2:c.3089C>A	NP_001157472.1:p.Ala1030Glu
NM_001205194.2:c.3116C>A	NP_001192123.1:p.Ala1039Glu
NM_001366466.2:c.3653C>A	NP_001353395.1:p.Ala1218Glu
NM_001366467.2:c.3119C>A	NP_001353396.1:p.Ala1040Glu
NM_001366468.2:c.3119C>A	NP_001353397.1:p.Ala1040Glu
NM_001366469.2:c.3116C>A	NP_001353398.1:p.Ala1039Glu
NM_001366470.2:c.3092C>A	NP_001353399.1:p.Ala1031Glu
NM_001366471.2:c.3089C>A	NP_001353400.1:p.Ala1030Glu
NM_001366472.2:c.3089C>A	NP_001353401.1:p.Ala1030Glu
NM_001366473.2:c.2681C>A	NP_001353402.1:p.Ala894Glu
NM_001366474.2:c.2117C>A	NP_001353403.1:p.Ala706Glu
NM_004991.4:c.3680C>A MANE Select	NP_004982.2:p.Ala1227Glu
NM_001105077.4:c.3311C>A	NP_001098547.3:p.Ala1104Glu
NM_001163999.2:c.3092C>A	NP_001157471.1:p.Ala1031Glu
NM_005241.4:c.3116C>A	NP_005232.2:p.Ala1039Glu