Canonical Allele Identifier: CA1310520106

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549788A= , CM000664.2:g.178549788A= GRCh38
NC_000002.11:g.179414515A= , CM000664.1:g.179414515A= GRCh37
NC_000002.10:g.179122761A= NCBI36
NG_011618.3:g.286015T= , LRG_391:g.286015T=
NG_051363.1:g.31962A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84230T= (TTN) ENSP00000343764.6:p.Leu28077=
ENST00000342175.11:c.65315T= (TTN) ENSP00000340554.6:p.Leu21772=
ENST00000359218.10:c.65114T= (TTN) ENSP00000352154.5:p.Leu21705=
ENST00000342175.10:c.65315T= (TTN) ENSP00000340554.6:p.Leu21772=
ENST00000342992.10:c.84230T= (TTN) ENSP00000343764.6:p.Leu28077=
ENST00000359218.9:c.65114T= (TTN) ENSP00000352154.5:p.Leu21705=
ENST00000460472.6:c.64739T= (TTN) ENSP00000434586.1:p.Leu21580=
ENST00000589042.5:c.91934T= (TTN) MANE Select ENSP00000467141.1:p.Leu30645=
ENST00000591111.5:c.87011T= (TTN) ENSP00000465570.1:p.Leu29004=
ENST00000615779.4:c.87011T= (TTN) ENSP00000483597.1:p.Leu29004=
NM_001256850.1:c.87011T= (TTN) NP_001243779.1:p.Leu29004=
NM_001267550.2:c.91934T= (TTN) MANE Select NP_001254479.2:p.Leu30645=
NM_003319.4:c.64739T= (TTN) NP_003310.4:p.Leu21580=
NM_133378.4:c.84230T= (TTN) NP_596869.4:p.Leu28077=
NM_133432.3:c.65114T= (TTN) NP_597676.3:p.Leu21705=
NM_133437.4:c.65315T= (TTN) NP_597681.4:p.Leu21772=
NR_038271.1:n.447-21512A= (TTN-AS1)
NR_038272.1:n.2043+7427A= (TTN-AS1)
XM_011511729.1:c.91031T= (TTN) XP_011510031.1:p.Leu30344=
XM_011511730.1:c.64925T= (TTN) XP_011510032.1:p.Leu21642=
XM_011511731.1:c.64784T= (TTN) XP_011510033.1:p.Leu21595=
XM_017004819.1:c.90827T= (TTN) XP_016860308.1:p.Leu30276=
XM_017004820.1:c.86225T= (TTN) XP_016860309.1:p.Leu28742=
XM_017004821.1:c.86222T= (TTN) XP_016860310.1:p.Leu28741=
XM_017004822.1:c.83264T= (TTN) XP_016860311.1:p.Leu27755=
XM_017004823.1:c.64880T= (TTN) XP_016860312.1:p.Leu21627=
XM_024453094.1:c.86375T= (TTN) XP_024308862.1:p.Leu28792=
XM_024453095.1:c.86372T= (TTN) XP_024308863.1:p.Leu28791=
XM_024453096.1:c.85805T= (TTN) XP_024308864.1:p.Leu28602=
XM_024453097.1:c.83147T= (TTN) XP_024308865.1:p.Leu27716=
XM_024453098.1:c.83066T= (TTN) XP_024308866.1:p.Leu27689=
XM_024453099.1:c.64829T= (TTN) XP_024308867.1:p.Leu21610=
XM_024453100.1:c.54683T= (TTN) XP_024308868.1:p.Leu18228=