Canonical Allele Identifier: CA1310520111

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549794G= , CM000664.2:g.178549794G= GRCh38
NC_000002.11:g.179414521G= , CM000664.1:g.179414521G= GRCh37
NC_000002.10:g.179122767G= NCBI36
NG_011618.3:g.286009C= , LRG_391:g.286009C=
NG_051363.1:g.31968G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84224C= (TTN) ENSP00000343764.6:p.Ala28075=
ENST00000342175.11:c.65309C= (TTN) ENSP00000340554.6:p.Ala21770=
ENST00000359218.10:c.65108C= (TTN) ENSP00000352154.5:p.Ala21703=
ENST00000342175.10:c.65309C= (TTN) ENSP00000340554.6:p.Ala21770=
ENST00000342992.10:c.84224C= (TTN) ENSP00000343764.6:p.Ala28075=
ENST00000359218.9:c.65108C= (TTN) ENSP00000352154.5:p.Ala21703=
ENST00000460472.6:c.64733C= (TTN) ENSP00000434586.1:p.Ala21578=
ENST00000589042.5:c.91928C= (TTN) MANE Select ENSP00000467141.1:p.Ala30643=
ENST00000591111.5:c.87005C= (TTN) ENSP00000465570.1:p.Ala29002=
ENST00000615779.4:c.87005C= (TTN) ENSP00000483597.1:p.Ala29002=
NM_001256850.1:c.87005C= (TTN) NP_001243779.1:p.Ala29002=
NM_001267550.2:c.91928C= (TTN) MANE Select NP_001254479.2:p.Ala30643=
NM_003319.4:c.64733C= (TTN) NP_003310.4:p.Ala21578=
NM_133378.4:c.84224C= (TTN) NP_596869.4:p.Ala28075=
NM_133432.3:c.65108C= (TTN) NP_597676.3:p.Ala21703=
NM_133437.4:c.65309C= (TTN) NP_597681.4:p.Ala21770=
NR_038271.1:n.447-21506G= (TTN-AS1)
NR_038272.1:n.2043+7433G= (TTN-AS1)
XM_011511729.1:c.91025C= (TTN) XP_011510031.1:p.Ala30342=
XM_011511730.1:c.64919C= (TTN) XP_011510032.1:p.Ala21640=
XM_011511731.1:c.64778C= (TTN) XP_011510033.1:p.Ala21593=
XM_017004819.1:c.90821C= (TTN) XP_016860308.1:p.Ala30274=
XM_017004820.1:c.86219C= (TTN) XP_016860309.1:p.Ala28740=
XM_017004821.1:c.86216C= (TTN) XP_016860310.1:p.Ala28739=
XM_017004822.1:c.83258C= (TTN) XP_016860311.1:p.Ala27753=
XM_017004823.1:c.64874C= (TTN) XP_016860312.1:p.Ala21625=
XM_024453094.1:c.86369C= (TTN) XP_024308862.1:p.Ala28790=
XM_024453095.1:c.86366C= (TTN) XP_024308863.1:p.Ala28789=
XM_024453096.1:c.85799C= (TTN) XP_024308864.1:p.Ala28600=
XM_024453097.1:c.83141C= (TTN) XP_024308865.1:p.Ala27714=
XM_024453098.1:c.83060C= (TTN) XP_024308866.1:p.Ala27687=
XM_024453099.1:c.64823C= (TTN) XP_024308867.1:p.Ala21608=
XM_024453100.1:c.54677C= (TTN) XP_024308868.1:p.Ala18226=