Canonical Allele Identifier: CA2695839

Gene: MECOM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169084994G>A , CM000665.2:g.169084994G>A	GRCh38
NC_000003.11:g.168802782G>A , CM000665.1:g.168802782G>A	GRCh37
NC_000003.10:g.170285476G>A	NCBI36
NG_028279.1:g.583782C>T
NG_028279.2:g.583782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494292.6:c.3608C>T	ENSP00000417899.1:p.Thr1203Ile
ENST00000651503.2:c.3635C>T MANE Select	ENSP00000498411.1:p.Thr1212Ile
ENST00000264674.7:c.3266C>T	ENSP00000264674.3:p.Thr1089Ile
ENST00000433243.6:c.3074C>T	ENSP00000394302.2:p.Thr1025Ile
ENST00000460814.5:c.*85C>T	ENSP00000420466.1:n.*85C>T
ENST00000464456.5:c.3044C>T	ENSP00000419770.1:p.Thr1015Ile
ENST00000468789.5:c.3071C>T	ENSP00000419995.1:p.Thr1024Ile
ENST00000472280.5:c.3074C>T	ENSP00000420048.1:p.Thr1025Ile
ENST00000494292.5:c.3608C>T	ENSP00000417899.1:p.Thr1203Ile
ENST00000628990.2:c.3071C>T	ENSP00000486104.1:p.Thr1024Ile
NM_001105077.3:c.3266C>T	NP_001098547.3:p.Thr1089Ile
NM_001105078.3:c.3071C>T	NP_001098548.2:p.Thr1024Ile
NM_001163999.1:c.3047C>T	NP_001157471.1:p.Thr1016Ile
NM_001164000.1:c.3044C>T	NP_001157472.1:p.Thr1015Ile
NM_001205194.1:c.3071C>T	NP_001192123.1:p.Thr1024Ile
NM_004991.3:c.3635C>T	NP_004982.2:p.Thr1212Ile
NM_005241.3:c.3071C>T	NP_005232.2:p.Thr1024Ile
XM_005247213.2:c.3638C>T	XP_005247270.1:p.Thr1213Ile
XM_005247214.2:c.3611C>T	XP_005247271.1:p.Thr1204Ile
XM_005247215.2:c.3608C>T	XP_005247272.1:p.Thr1203Ile
XM_005247219.2:c.3074C>T	XP_005247276.1:p.Thr1025Ile
XM_005247220.2:c.3074C>T	XP_005247277.1:p.Thr1025Ile
XM_005247221.2:c.3074C>T	XP_005247278.1:p.Thr1025Ile
XM_005247223.2:c.3071C>T	XP_005247280.1:p.Thr1024Ile
XM_005247224.2:c.2666C>T	XP_005247281.1:p.Thr889Ile
XM_005247225.2:c.2663C>T	XP_005247282.1:p.Thr888Ile
XM_005247226.2:c.2636C>T	XP_005247283.1:p.Thr879Ile
XM_011512546.1:c.3290C>T	XP_011510848.1:p.Thr1097Ile
XM_011512547.1:c.3266C>T	XP_011510849.1:p.Thr1089Ile
XM_011512548.1:c.3266C>T	XP_011510850.1:p.Thr1089Ile
NM_001366466.1:c.3608C>T	NP_001353395.1:p.Thr1203Ile
NM_001366467.1:c.3074C>T	NP_001353396.1:p.Thr1025Ile
NM_001366468.1:c.3074C>T	NP_001353397.1:p.Thr1025Ile
NM_001366469.1:c.3071C>T	NP_001353398.1:p.Thr1024Ile
NM_001366470.1:c.3047C>T	NP_001353399.1:p.Thr1016Ile
NM_001366471.1:c.3044C>T	NP_001353400.1:p.Thr1015Ile
NM_001366472.1:c.3044C>T	NP_001353401.1:p.Thr1015Ile
NM_001366473.1:c.2636C>T	NP_001353402.1:p.Thr879Ile
NM_001366474.1:c.2072C>T	NP_001353403.1:p.Thr691Ile
XM_005247213.3:c.3638C>T	XP_005247270.1:p.Thr1213Ile
XM_005247214.3:c.3611C>T	XP_005247271.1:p.Thr1204Ile
XM_005247224.3:c.2666C>T	XP_005247281.1:p.Thr889Ile
XM_005247225.4:c.2663C>T	XP_005247282.1:p.Thr888Ile
XM_011512546.2:c.3290C>T	XP_011510848.1:p.Thr1097Ile
XM_017005874.1:c.3266C>T	XP_016861363.1:p.Thr1089Ile
XM_017005877.1:c.2639C>T	XP_016861366.1:p.Thr880Ile
NM_001105078.4:c.3071C>T	NP_001098548.2:p.Thr1024Ile
NM_001164000.2:c.3044C>T	NP_001157472.1:p.Thr1015Ile
NM_001205194.2:c.3071C>T	NP_001192123.1:p.Thr1024Ile
NM_001366466.2:c.3608C>T	NP_001353395.1:p.Thr1203Ile
NM_001366467.2:c.3074C>T	NP_001353396.1:p.Thr1025Ile
NM_001366468.2:c.3074C>T	NP_001353397.1:p.Thr1025Ile
NM_001366469.2:c.3071C>T	NP_001353398.1:p.Thr1024Ile
NM_001366470.2:c.3047C>T	NP_001353399.1:p.Thr1016Ile
NM_001366471.2:c.3044C>T	NP_001353400.1:p.Thr1015Ile
NM_001366472.2:c.3044C>T	NP_001353401.1:p.Thr1015Ile
NM_001366473.2:c.2636C>T	NP_001353402.1:p.Thr879Ile
NM_001366474.2:c.2072C>T	NP_001353403.1:p.Thr691Ile
NM_004991.4:c.3635C>T MANE Select	NP_004982.2:p.Thr1212Ile
NM_001105077.4:c.3266C>T	NP_001098547.3:p.Thr1089Ile
NM_001163999.2:c.3047C>T	NP_001157471.1:p.Thr1016Ile
NM_005241.4:c.3071C>T	NP_005232.2:p.Thr1024Ile