Canonical Allele Identifier: CA2695880

Gene: MECOM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169089072C>T , CM000665.2:g.169089072C>T	GRCh38
NC_000003.11:g.168806860C>T , CM000665.1:g.168806860C>T	GRCh37
NC_000003.10:g.170289554C>T	NCBI36
NG_028279.1:g.579704G>A
NG_028279.2:g.579704G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004991.4:c.3513G>A MANE Select	NP_004982.2:p.Glu1171=
ENST00000651503.2:c.3513G>A MANE Select	ENSP00000498411.1:p.Glu1171=
NM_001105077.3:c.3144G>A	NP_001098547.3:p.Glu1048=
NM_001105077.4:c.3144G>A	NP_001098547.3:p.Glu1048=
NM_001105078.3:c.2949G>A	NP_001098548.2:p.Glu983=
NM_001105078.4:c.2949G>A	NP_001098548.2:p.Glu983=
NM_001163999.1:c.2925G>A	NP_001157471.1:p.Glu975=
NM_001163999.2:c.2925G>A	NP_001157471.1:p.Glu975=
NM_001164000.1:c.2922G>A	NP_001157472.1:p.Glu974=
NM_001164000.2:c.2922G>A	NP_001157472.1:p.Glu974=
NM_001205194.1:c.2949G>A	NP_001192123.1:p.Glu983=
NM_001205194.2:c.2949G>A	NP_001192123.1:p.Glu983=
NM_001366466.1:c.3486G>A	NP_001353395.1:p.Glu1162=
NM_001366466.2:c.3486G>A	NP_001353395.1:p.Glu1162=
NM_001366467.1:c.2952G>A	NP_001353396.1:p.Glu984=
NM_001366467.2:c.2952G>A	NP_001353396.1:p.Glu984=
NM_001366468.1:c.2952G>A	NP_001353397.1:p.Glu984=
NM_001366468.2:c.2952G>A	NP_001353397.1:p.Glu984=
NM_001366469.1:c.2949G>A	NP_001353398.1:p.Glu983=
NM_001366469.2:c.2949G>A	NP_001353398.1:p.Glu983=
NM_001366470.1:c.2925G>A	NP_001353399.1:p.Glu975=
NM_001366470.2:c.2925G>A	NP_001353399.1:p.Glu975=
NM_001366471.1:c.2922G>A	NP_001353400.1:p.Glu974=
NM_001366471.2:c.2922G>A	NP_001353400.1:p.Glu974=
NM_001366472.1:c.2922G>A	NP_001353401.1:p.Glu974=
NM_001366472.2:c.2922G>A	NP_001353401.1:p.Glu974=
NM_001366473.1:c.2514G>A	NP_001353402.1:p.Glu838=
NM_001366473.2:c.2514G>A	NP_001353402.1:p.Glu838=
NM_001366474.1:c.1950G>A	NP_001353403.1:p.Glu650=
NM_001366474.2:c.1950G>A	NP_001353403.1:p.Glu650=
NM_004991.3:c.3513G>A	NP_004982.2:p.Glu1171=
NM_005241.3:c.2949G>A	NP_005232.2:p.Glu983=
NM_005241.4:c.2949G>A	NP_005232.2:p.Glu983=
ENST00000264674.7:c.3144G>A	ENSP00000264674.3:p.Glu1048=
ENST00000433243.6:c.2952G>A	ENSP00000394302.2:p.Glu984=
ENST00000460814.5:c.2922G>A	ENSP00000420466.1:p.Glu974=
ENST00000464456.5:c.2922G>A	ENSP00000419770.1:p.Glu974=
ENST00000468789.5:c.2949G>A	ENSP00000419995.1:p.Glu983=
ENST00000472280.5:c.2952G>A	ENSP00000420048.1:p.Glu984=
ENST00000494292.5:c.3486G>A	ENSP00000417899.1:p.Glu1162=
ENST00000494292.6:c.3486G>A	ENSP00000417899.1:p.Glu1162=
ENST00000628990.2:c.2949G>A	ENSP00000486104.1:p.Glu983=
XM_005247213.2:c.3516G>A	XP_005247270.1:p.Glu1172=
XM_005247213.3:c.3516G>A	XP_005247270.1:p.Glu1172=
XM_005247214.2:c.3489G>A	XP_005247271.1:p.Glu1163=
XM_005247214.3:c.3489G>A	XP_005247271.1:p.Glu1163=
XM_005247215.2:c.3486G>A	XP_005247272.1:p.Glu1162=
XM_005247219.2:c.2952G>A	XP_005247276.1:p.Glu984=
XM_005247220.2:c.2952G>A	XP_005247277.1:p.Glu984=
XM_005247221.2:c.2952G>A	XP_005247278.1:p.Glu984=
XM_005247223.2:c.2949G>A	XP_005247280.1:p.Glu983=
XM_005247224.2:c.2544G>A	XP_005247281.1:p.Glu848=
XM_005247224.3:c.2544G>A	XP_005247281.1:p.Glu848=
XM_005247225.2:c.2541G>A	XP_005247282.1:p.Glu847=
XM_005247225.4:c.2541G>A	XP_005247282.1:p.Glu847=
XM_005247226.2:c.2514G>A	XP_005247283.1:p.Glu838=
XM_011512546.1:c.3168G>A	XP_011510848.1:p.Glu1056=
XM_011512546.2:c.3168G>A	XP_011510848.1:p.Glu1056=
XM_011512547.1:c.3144G>A	XP_011510849.1:p.Glu1048=
XM_011512548.1:c.3144G>A	XP_011510850.1:p.Glu1048=
XM_017005874.1:c.3144G>A	XP_016861363.1:p.Glu1048=
XM_017005877.1:c.2517G>A	XP_016861366.1:p.Glu839=