Canonical Allele Identifier: CA2695824

Gene: MECOM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169084914C>T , CM000665.2:g.169084914C>T	GRCh38
NC_000003.11:g.168802702C>T , CM000665.1:g.168802702C>T	GRCh37
NC_000003.10:g.170285396C>T	NCBI36
NG_028279.1:g.583862G>A
NG_028279.2:g.583862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494292.6:c.3688G>A	ENSP00000417899.1:p.Val1230Ile
ENST00000651503.2:c.3715G>A MANE Select	ENSP00000498411.1:p.Val1239Ile
ENST00000264674.7:c.3346G>A	ENSP00000264674.3:p.Val1116Ile
ENST00000433243.6:c.3154G>A	ENSP00000394302.2:p.Val1052Ile
ENST00000460814.5:c.*165G>A	ENSP00000420466.1:n.*165G>A
ENST00000464456.5:c.3124G>A	ENSP00000419770.1:p.Val1042Ile
ENST00000468789.5:c.3151G>A	ENSP00000419995.1:p.Val1051Ile
ENST00000472280.5:c.3154G>A	ENSP00000420048.1:p.Val1052Ile
ENST00000494292.5:c.3688G>A	ENSP00000417899.1:p.Val1230Ile
ENST00000628990.2:c.3151G>A	ENSP00000486104.1:p.Val1051Ile
NM_001105077.3:c.3346G>A	NP_001098547.3:p.Val1116Ile
NM_001105078.3:c.3151G>A	NP_001098548.2:p.Val1051Ile
NM_001163999.1:c.3127G>A	NP_001157471.1:p.Val1043Ile
NM_001164000.1:c.3124G>A	NP_001157472.1:p.Val1042Ile
NM_001205194.1:c.3151G>A	NP_001192123.1:p.Val1051Ile
NM_004991.3:c.3715G>A	NP_004982.2:p.Val1239Ile
NM_005241.3:c.3151G>A	NP_005232.2:p.Val1051Ile
XM_005247213.2:c.3718G>A	XP_005247270.1:p.Val1240Ile
XM_005247214.2:c.3691G>A	XP_005247271.1:p.Val1231Ile
XM_005247215.2:c.3688G>A	XP_005247272.1:p.Val1230Ile
XM_005247219.2:c.3154G>A	XP_005247276.1:p.Val1052Ile
XM_005247220.2:c.3154G>A	XP_005247277.1:p.Val1052Ile
XM_005247221.2:c.3154G>A	XP_005247278.1:p.Val1052Ile
XM_005247223.2:c.3151G>A	XP_005247280.1:p.Val1051Ile
XM_005247224.2:c.2746G>A	XP_005247281.1:p.Val916Ile
XM_005247225.2:c.2743G>A	XP_005247282.1:p.Val915Ile
XM_005247226.2:c.2716G>A	XP_005247283.1:p.Val906Ile
XM_011512546.1:c.3370G>A	XP_011510848.1:p.Val1124Ile
XM_011512547.1:c.3346G>A	XP_011510849.1:p.Val1116Ile
XM_011512548.1:c.3346G>A	XP_011510850.1:p.Val1116Ile
NM_001366466.1:c.3688G>A	NP_001353395.1:p.Val1230Ile
NM_001366467.1:c.3154G>A	NP_001353396.1:p.Val1052Ile
NM_001366468.1:c.3154G>A	NP_001353397.1:p.Val1052Ile
NM_001366469.1:c.3151G>A	NP_001353398.1:p.Val1051Ile
NM_001366470.1:c.3127G>A	NP_001353399.1:p.Val1043Ile
NM_001366471.1:c.3124G>A	NP_001353400.1:p.Val1042Ile
NM_001366472.1:c.3124G>A	NP_001353401.1:p.Val1042Ile
NM_001366473.1:c.2716G>A	NP_001353402.1:p.Val906Ile
NM_001366474.1:c.2152G>A	NP_001353403.1:p.Val718Ile
XM_005247213.3:c.3718G>A	XP_005247270.1:p.Val1240Ile
XM_005247214.3:c.3691G>A	XP_005247271.1:p.Val1231Ile
XM_005247224.3:c.2746G>A	XP_005247281.1:p.Val916Ile
XM_005247225.4:c.2743G>A	XP_005247282.1:p.Val915Ile
XM_011512546.2:c.3370G>A	XP_011510848.1:p.Val1124Ile
XM_017005874.1:c.3346G>A	XP_016861363.1:p.Val1116Ile
XM_017005877.1:c.2719G>A	XP_016861366.1:p.Val907Ile
NM_001105078.4:c.3151G>A	NP_001098548.2:p.Val1051Ile
NM_001164000.2:c.3124G>A	NP_001157472.1:p.Val1042Ile
NM_001205194.2:c.3151G>A	NP_001192123.1:p.Val1051Ile
NM_001366466.2:c.3688G>A	NP_001353395.1:p.Val1230Ile
NM_001366467.2:c.3154G>A	NP_001353396.1:p.Val1052Ile
NM_001366468.2:c.3154G>A	NP_001353397.1:p.Val1052Ile
NM_001366469.2:c.3151G>A	NP_001353398.1:p.Val1051Ile
NM_001366470.2:c.3127G>A	NP_001353399.1:p.Val1043Ile
NM_001366471.2:c.3124G>A	NP_001353400.1:p.Val1042Ile
NM_001366472.2:c.3124G>A	NP_001353401.1:p.Val1042Ile
NM_001366473.2:c.2716G>A	NP_001353402.1:p.Val906Ile
NM_001366474.2:c.2152G>A	NP_001353403.1:p.Val718Ile
NM_004991.4:c.3715G>A MANE Select	NP_004982.2:p.Val1239Ile
NM_001105077.4:c.3346G>A	NP_001098547.3:p.Val1116Ile
NM_001163999.2:c.3127G>A	NP_001157471.1:p.Val1043Ile
NM_005241.4:c.3151G>A	NP_005232.2:p.Val1051Ile