Canonical Allele Identifier: CA355072163

Gene: MECOM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169093016G>A , CM000665.2:g.169093016G>A	GRCh38
NC_000003.11:g.168810804G>A , CM000665.1:g.168810804G>A	GRCh37
NC_000003.10:g.170293498G>A	NCBI36
NG_028279.1:g.575760C>T
NG_028279.2:g.575760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494292.6:c.3079C>T	ENSP00000417899.1:p.Arg1027Ter
ENST00000651503.2:c.3106C>T MANE Select	ENSP00000498411.1:p.Arg1036Ter
ENST00000264674.7:c.2737C>T	ENSP00000264674.3:p.Arg913Ter
ENST00000433243.6:c.2545C>T	ENSP00000394302.2:p.Arg849Ter
ENST00000460814.5:c.2515C>T	ENSP00000420466.1:p.Arg839Ter
ENST00000464456.5:c.2515C>T	ENSP00000419770.1:p.Arg839Ter
ENST00000468789.5:c.2542C>T	ENSP00000419995.1:p.Arg848Ter
ENST00000472280.5:c.2545C>T	ENSP00000420048.1:p.Arg849Ter
ENST00000494292.5:c.3079C>T	ENSP00000417899.1:p.Arg1027Ter
ENST00000628990.2:c.2542C>T	ENSP00000486104.1:p.Arg848Ter
NM_001105077.3:c.2737C>T	NP_001098547.3:p.Arg913Ter
NM_001105078.3:c.2542C>T	NP_001098548.2:p.Arg848Ter
NM_001163999.1:c.2518C>T	NP_001157471.1:p.Arg840Ter
NM_001164000.1:c.2515C>T	NP_001157472.1:p.Arg839Ter
NM_001205194.1:c.2542C>T	NP_001192123.1:p.Arg848Ter
NM_004991.3:c.3106C>T	NP_004982.2:p.Arg1036Ter
NM_005241.3:c.2542C>T	NP_005232.2:p.Arg848Ter
XM_005247213.2:c.3109C>T	XP_005247270.1:p.Arg1037Ter
XM_005247214.2:c.3082C>T	XP_005247271.1:p.Arg1028Ter
XM_005247215.2:c.3079C>T	XP_005247272.1:p.Arg1027Ter
XM_005247219.2:c.2545C>T	XP_005247276.1:p.Arg849Ter
XM_005247220.2:c.2545C>T	XP_005247277.1:p.Arg849Ter
XM_005247221.2:c.2545C>T	XP_005247278.1:p.Arg849Ter
XM_005247223.2:c.2542C>T	XP_005247280.1:p.Arg848Ter
XM_005247224.2:c.2137C>T	XP_005247281.1:p.Arg713Ter
XM_005247225.2:c.2134C>T	XP_005247282.1:p.Arg712Ter
XM_005247226.2:c.2107C>T	XP_005247283.1:p.Arg703Ter
XM_011512546.1:c.2761C>T	XP_011510848.1:p.Arg921Ter
XM_011512547.1:c.2737C>T	XP_011510849.1:p.Arg913Ter
XM_011512548.1:c.2737C>T	XP_011510850.1:p.Arg913Ter
NM_001366466.1:c.3079C>T	NP_001353395.1:p.Arg1027Ter
NM_001366467.1:c.2545C>T	NP_001353396.1:p.Arg849Ter
NM_001366468.1:c.2545C>T	NP_001353397.1:p.Arg849Ter
NM_001366469.1:c.2542C>T	NP_001353398.1:p.Arg848Ter
NM_001366470.1:c.2518C>T	NP_001353399.1:p.Arg840Ter
NM_001366471.1:c.2515C>T	NP_001353400.1:p.Arg839Ter
NM_001366472.1:c.2515C>T	NP_001353401.1:p.Arg839Ter
NM_001366473.1:c.2107C>T	NP_001353402.1:p.Arg703Ter
NM_001366474.1:c.1543C>T	NP_001353403.1:p.Arg515Ter
XM_005247213.3:c.3109C>T	XP_005247270.1:p.Arg1037Ter
XM_005247214.3:c.3082C>T	XP_005247271.1:p.Arg1028Ter
XM_005247224.3:c.2137C>T	XP_005247281.1:p.Arg713Ter
XM_005247225.4:c.2134C>T	XP_005247282.1:p.Arg712Ter
XM_011512546.2:c.2761C>T	XP_011510848.1:p.Arg921Ter
XM_017005874.1:c.2737C>T	XP_016861363.1:p.Arg913Ter
XM_017005877.1:c.2110C>T	XP_016861366.1:p.Arg704Ter
NM_001105078.4:c.2542C>T	NP_001098548.2:p.Arg848Ter
NM_001164000.2:c.2515C>T	NP_001157472.1:p.Arg839Ter
NM_001205194.2:c.2542C>T	NP_001192123.1:p.Arg848Ter
NM_001366466.2:c.3079C>T	NP_001353395.1:p.Arg1027Ter
NM_001366467.2:c.2545C>T	NP_001353396.1:p.Arg849Ter
NM_001366468.2:c.2545C>T	NP_001353397.1:p.Arg849Ter
NM_001366469.2:c.2542C>T	NP_001353398.1:p.Arg848Ter
NM_001366470.2:c.2518C>T	NP_001353399.1:p.Arg840Ter
NM_001366471.2:c.2515C>T	NP_001353400.1:p.Arg839Ter
NM_001366472.2:c.2515C>T	NP_001353401.1:p.Arg839Ter
NM_001366473.2:c.2107C>T	NP_001353402.1:p.Arg703Ter
NM_001366474.2:c.1543C>T	NP_001353403.1:p.Arg515Ter
NM_004991.4:c.3106C>T MANE Select	NP_004982.2:p.Arg1036Ter
NM_001105077.4:c.2737C>T	NP_001098547.3:p.Arg913Ter
NM_001163999.2:c.2518C>T	NP_001157471.1:p.Arg840Ter
NM_005241.4:c.2542C>T	NP_005232.2:p.Arg848Ter