Canonical Allele Identifier: CA349427128

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537175A>T , CM000664.2:g.178537175A>T GRCh38
NC_000002.11:g.179401902A>T , CM000664.1:g.179401902A>T GRCh37
NC_000002.10:g.179110148A>T NCBI36
NG_011618.3:g.298628T>A , LRG_391:g.298628T>A
NG_051363.1:g.19349A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92230T>A (TTN) ENSP00000343764.6:p.Trp30744Arg
ENST00000342175.11:c.73315T>A (TTN) ENSP00000340554.6:p.Trp24439Arg
ENST00000359218.10:c.73114T>A (TTN) ENSP00000352154.5:p.Trp24372Arg
ENST00000342175.10:c.73315T>A (TTN) ENSP00000340554.6:p.Trp24439Arg
ENST00000342992.10:c.92230T>A (TTN) ENSP00000343764.6:p.Trp30744Arg
ENST00000359218.9:c.73114T>A (TTN) ENSP00000352154.5:p.Trp24372Arg
ENST00000460472.6:c.72739T>A (TTN) ENSP00000434586.1:p.Trp24247Arg
ENST00000589042.5:c.99934T>A (TTN) MANE Select ENSP00000467141.1:p.Trp33312Arg
ENST00000591111.5:c.95011T>A (TTN) ENSP00000465570.1:p.Trp31671Arg
ENST00000615779.4:c.95011T>A (TTN) ENSP00000483597.1:p.Trp31671Arg
NM_001256850.1:c.95011T>A (TTN) NP_001243779.1:p.Trp31671Arg
NM_001267550.2:c.99934T>A (TTN) MANE Select NP_001254479.2:p.Trp33312Arg
NM_003319.4:c.72739T>A (TTN) NP_003310.4:p.Trp24247Arg
NM_133378.4:c.92230T>A (TTN) NP_596869.4:p.Trp30744Arg
NM_133432.3:c.73114T>A (TTN) NP_597676.3:p.Trp24372Arg
NM_133437.4:c.73315T>A (TTN) NP_597681.4:p.Trp24439Arg
NR_038271.1:n.446+13539A>T (TTN-AS1)
NR_038272.1:n.317-186A>T (TTN-AS1)
XM_011511729.1:c.99031T>A (TTN) XP_011510031.1:p.Trp33011Arg
XM_011511730.1:c.72925T>A (TTN) XP_011510032.1:p.Trp24309Arg
XM_011511731.1:c.72784T>A (TTN) XP_011510033.1:p.Trp24262Arg
XM_017004819.1:c.98827T>A (TTN) XP_016860308.1:p.Trp32943Arg
XM_017004820.1:c.94225T>A (TTN) XP_016860309.1:p.Trp31409Arg
XM_017004821.1:c.94222T>A (TTN) XP_016860310.1:p.Trp31408Arg
XM_017004822.1:c.91264T>A (TTN) XP_016860311.1:p.Trp30422Arg
XM_017004823.1:c.72880T>A (TTN) XP_016860312.1:p.Trp24294Arg
XM_024453094.1:c.94375T>A (TTN) XP_024308862.1:p.Trp31459Arg
XM_024453095.1:c.94372T>A (TTN) XP_024308863.1:p.Trp31458Arg
XM_024453096.1:c.93805T>A (TTN) XP_024308864.1:p.Trp31269Arg
XM_024453097.1:c.91147T>A (TTN) XP_024308865.1:p.Trp30383Arg
XM_024453098.1:c.91066T>A (TTN) XP_024308866.1:p.Trp30356Arg
XM_024453099.1:c.72829T>A (TTN) XP_024308867.1:p.Trp24277Arg
XM_024453100.1:c.62683T>A (TTN) XP_024308868.1:p.Trp20895Arg