Canonical Allele Identifier: CA1995036
Community Standard Title: NM_001267550.2(TTN):c.47512C>T (p.Arg15838Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178617839G>A , CM000664.2:g.178617839G>A GRCh38
NC_000002.11:g.179482566G>A , CM000664.1:g.179482566G>A GRCh37
NC_000002.10:g.179190811G>A NCBI36
NG_011618.3:g.217964C>T , LRG_391:g.217964C>T
NG_051363.1:g.100013G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.47512C>T (TTN) MANE Select NP_001254479.2:p.Arg15838Ter
ENST00000589042.5:c.47512C>T (TTN) MANE Select ENSP00000467141.1:p.Arg15838Ter
NM_001256850.1:c.42589C>T (TTN) NP_001243779.1:p.Arg14197Ter
NM_003319.4:c.20317C>T (TTN) NP_003310.4:p.Arg6773Ter
NM_133378.4:c.39808C>T (TTN) NP_596869.4:p.Arg13270Ter
NM_133432.3:c.20692C>T (TTN) NP_597676.3:p.Arg6898Ter
NM_133437.4:c.20893C>T (TTN) NP_597681.4:p.Arg6965Ter
NR_038271.1:n.1605-1914G>A (TTN-AS1)
ENST00000342175.10:c.20893C>T (TTN) ENSP00000340554.6:p.Arg6965Ter
ENST00000342175.11:c.20893C>T (TTN) ENSP00000340554.6:p.Arg6965Ter
ENST00000342992.10:c.39808C>T (TTN) ENSP00000343764.6:p.Arg13270Ter
ENST00000342992.11:c.39808C>T (TTN) ENSP00000343764.6:p.Arg13270Ter
ENST00000359218.10:c.20692C>T (TTN) ENSP00000352154.5:p.Arg6898Ter
ENST00000359218.9:c.20692C>T (TTN) ENSP00000352154.5:p.Arg6898Ter
ENST00000460472.6:c.20317C>T (TTN) ENSP00000434586.1:p.Arg6773Ter
ENST00000591111.5:c.42589C>T (TTN) ENSP00000465570.1:p.Arg14197Ter
ENST00000615779.4:c.42589C>T (TTN) ENSP00000483597.1:p.Arg14197Ter
XM_011511729.1:c.46609C>T (TTN) XP_011510031.1:p.Arg15537Ter
XM_011511730.1:c.20503C>T (TTN) XP_011510032.1:p.Arg6835Ter
XM_011511731.1:c.20362C>T (TTN) XP_011510033.1:p.Arg6788Ter
XM_017004819.1:c.46405C>T (TTN) XP_016860308.1:p.Arg15469Ter
XM_017004820.1:c.41803C>T (TTN) XP_016860309.1:p.Arg13935Ter
XM_017004821.1:c.41800C>T (TTN) XP_016860310.1:p.Arg13934Ter
XM_017004822.1:c.38842C>T (TTN) XP_016860311.1:p.Arg12948Ter
XM_017004823.1:c.20458C>T (TTN) XP_016860312.1:p.Arg6820Ter
XM_024453094.1:c.41953C>T (TTN) XP_024308862.1:p.Arg13985Ter
XM_024453095.1:c.41950C>T (TTN) XP_024308863.1:p.Arg13984Ter
XM_024453096.1:c.41383C>T (TTN) XP_024308864.1:p.Arg13795Ter
XM_024453097.1:c.38725C>T (TTN) XP_024308865.1:p.Arg12909Ter
XM_024453098.1:c.38644C>T (TTN) XP_024308866.1:p.Arg12882Ter
XM_024453099.1:c.20407C>T (TTN) XP_024308867.1:p.Arg6803Ter
XM_024453100.1:c.10261C>T (TTN) XP_024308868.1:p.Arg3421Ter