Canonical Allele Identifier: CA355074373

Gene: MECOM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169095214A>G , CM000665.2:g.169095214A>G	GRCh38
NC_000003.11:g.168813002A>G , CM000665.1:g.168813002A>G	GRCh37
NC_000003.10:g.170295696A>G	NCBI36
NG_028279.1:g.573562T>C
NG_028279.2:g.573562T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004991.4:c.2881T>C MANE Select	NP_004982.2:p.Ser961Pro
ENST00000651503.2:c.2881T>C MANE Select	ENSP00000498411.1:p.Ser961Pro
NM_001105077.3:c.2512T>C	NP_001098547.3:p.Ser838Pro
NM_001105077.4:c.2512T>C	NP_001098547.3:p.Ser838Pro
NM_001105078.3:c.2317T>C	NP_001098548.2:p.Ser773Pro
NM_001105078.4:c.2317T>C	NP_001098548.2:p.Ser773Pro
NM_001163999.1:c.2293T>C	NP_001157471.1:p.Ser765Pro
NM_001163999.2:c.2293T>C	NP_001157471.1:p.Ser765Pro
NM_001164000.1:c.2290T>C	NP_001157472.1:p.Ser764Pro
NM_001164000.2:c.2290T>C	NP_001157472.1:p.Ser764Pro
NM_001205194.1:c.2317T>C	NP_001192123.1:p.Ser773Pro
NM_001205194.2:c.2317T>C	NP_001192123.1:p.Ser773Pro
NM_001366466.1:c.2854T>C	NP_001353395.1:p.Ser952Pro
NM_001366466.2:c.2854T>C	NP_001353395.1:p.Ser952Pro
NM_001366467.1:c.2320T>C	NP_001353396.1:p.Ser774Pro
NM_001366467.2:c.2320T>C	NP_001353396.1:p.Ser774Pro
NM_001366468.1:c.2320T>C	NP_001353397.1:p.Ser774Pro
NM_001366468.2:c.2320T>C	NP_001353397.1:p.Ser774Pro
NM_001366469.1:c.2317T>C	NP_001353398.1:p.Ser773Pro
NM_001366469.2:c.2317T>C	NP_001353398.1:p.Ser773Pro
NM_001366470.1:c.2293T>C	NP_001353399.1:p.Ser765Pro
NM_001366470.2:c.2293T>C	NP_001353399.1:p.Ser765Pro
NM_001366471.1:c.2290T>C	NP_001353400.1:p.Ser764Pro
NM_001366471.2:c.2290T>C	NP_001353400.1:p.Ser764Pro
NM_001366472.1:c.2290T>C	NP_001353401.1:p.Ser764Pro
NM_001366472.2:c.2290T>C	NP_001353401.1:p.Ser764Pro
NM_001366473.1:c.1882T>C	NP_001353402.1:p.Ser628Pro
NM_001366473.2:c.1882T>C	NP_001353402.1:p.Ser628Pro
NM_001366474.1:c.1318T>C	NP_001353403.1:p.Ser440Pro
NM_001366474.2:c.1318T>C	NP_001353403.1:p.Ser440Pro
NM_004991.3:c.2881T>C	NP_004982.2:p.Ser961Pro
NM_005241.3:c.2317T>C	NP_005232.2:p.Ser773Pro
NM_005241.4:c.2317T>C	NP_005232.2:p.Ser773Pro
ENST00000264674.7:c.2512T>C	ENSP00000264674.3:p.Ser838Pro
ENST00000433243.6:c.2320T>C	ENSP00000394302.2:p.Ser774Pro
ENST00000460814.5:c.2290T>C	ENSP00000420466.1:p.Ser764Pro
ENST00000464456.5:c.2290T>C	ENSP00000419770.1:p.Ser764Pro
ENST00000468789.5:c.2317T>C	ENSP00000419995.1:p.Ser773Pro
ENST00000472280.5:c.2320T>C	ENSP00000420048.1:p.Ser774Pro
ENST00000494292.5:c.2854T>C	ENSP00000417899.1:p.Ser952Pro
ENST00000494292.6:c.2854T>C	ENSP00000417899.1:p.Ser952Pro
ENST00000628990.2:c.2317T>C	ENSP00000486104.1:p.Ser773Pro
XM_005247213.2:c.2884T>C	XP_005247270.1:p.Ser962Pro
XM_005247213.3:c.2884T>C	XP_005247270.1:p.Ser962Pro
XM_005247214.2:c.2857T>C	XP_005247271.1:p.Ser953Pro
XM_005247214.3:c.2857T>C	XP_005247271.1:p.Ser953Pro
XM_005247215.2:c.2854T>C	XP_005247272.1:p.Ser952Pro
XM_005247219.2:c.2320T>C	XP_005247276.1:p.Ser774Pro
XM_005247220.2:c.2320T>C	XP_005247277.1:p.Ser774Pro
XM_005247221.2:c.2320T>C	XP_005247278.1:p.Ser774Pro
XM_005247223.2:c.2317T>C	XP_005247280.1:p.Ser773Pro
XM_005247224.2:c.1912T>C	XP_005247281.1:p.Ser638Pro
XM_005247224.3:c.1912T>C	XP_005247281.1:p.Ser638Pro
XM_005247225.2:c.1909T>C	XP_005247282.1:p.Ser637Pro
XM_005247225.4:c.1909T>C	XP_005247282.1:p.Ser637Pro
XM_005247226.2:c.1882T>C	XP_005247283.1:p.Ser628Pro
XM_011512546.1:c.2536T>C	XP_011510848.1:p.Ser846Pro
XM_011512546.2:c.2536T>C	XP_011510848.1:p.Ser846Pro
XM_011512547.1:c.2512T>C	XP_011510849.1:p.Ser838Pro
XM_011512548.1:c.2512T>C	XP_011510850.1:p.Ser838Pro
XM_017005874.1:c.2512T>C	XP_016861363.1:p.Ser838Pro
XM_017005877.1:c.1885T>C	XP_016861366.1:p.Ser629Pro