Canonical Allele Identifier: CA1993858
Community Standard Title: NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607593G>A , CM000664.2:g.178607593G>A GRCh38
NC_000002.11:g.179472320G>A , CM000664.1:g.179472320G>A GRCh37
NC_000002.10:g.179180565G>A NCBI36
NG_011618.3:g.228210C>T , LRG_391:g.228210C>T
NG_051363.1:g.89767G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53095C>T (TTN) MANE Select NP_001254479.2:p.Arg17699Cys
ENST00000589042.5:c.53095C>T (TTN) MANE Select ENSP00000467141.1:p.Arg17699Cys
NM_001256850.1:c.48172C>T (TTN) NP_001243779.1:p.Arg16058Cys
NM_003319.4:c.25900C>T (TTN) NP_003310.4:p.Arg8634Cys
NM_133378.4:c.45391C>T (TTN) NP_596869.4:p.Arg15131Cys
NM_133432.3:c.26275C>T (TTN) NP_597676.3:p.Arg8759Cys
NM_133437.4:c.26476C>T (TTN) NP_597681.4:p.Arg8826Cys
NR_038271.1:n.683-574G>A (TTN-AS1)
ENST00000342175.10:c.26476C>T (TTN) ENSP00000340554.6:p.Arg8826Cys
ENST00000342175.11:c.26476C>T (TTN) ENSP00000340554.6:p.Arg8826Cys
ENST00000342992.10:c.45391C>T (TTN) ENSP00000343764.6:p.Arg15131Cys
ENST00000342992.11:c.45391C>T (TTN) ENSP00000343764.6:p.Arg15131Cys
ENST00000359218.10:c.26275C>T (TTN) ENSP00000352154.5:p.Arg8759Cys
ENST00000359218.9:c.26275C>T (TTN) ENSP00000352154.5:p.Arg8759Cys
ENST00000460472.6:c.25900C>T (TTN) ENSP00000434586.1:p.Arg8634Cys
ENST00000591111.5:c.48172C>T (TTN) ENSP00000465570.1:p.Arg16058Cys
ENST00000615779.4:c.48172C>T (TTN) ENSP00000483597.1:p.Arg16058Cys
XM_011511729.1:c.52192C>T (TTN) XP_011510031.1:p.Arg17398Cys
XM_011511730.1:c.26086C>T (TTN) XP_011510032.1:p.Arg8696Cys
XM_011511731.1:c.25945C>T (TTN) XP_011510033.1:p.Arg8649Cys
XM_017004819.1:c.51988C>T (TTN) XP_016860308.1:p.Arg17330Cys
XM_017004820.1:c.47386C>T (TTN) XP_016860309.1:p.Arg15796Cys
XM_017004821.1:c.47383C>T (TTN) XP_016860310.1:p.Arg15795Cys
XM_017004822.1:c.44425C>T (TTN) XP_016860311.1:p.Arg14809Cys
XM_017004823.1:c.26041C>T (TTN) XP_016860312.1:p.Arg8681Cys
XM_024453094.1:c.47536C>T (TTN) XP_024308862.1:p.Arg15846Cys
XM_024453095.1:c.47533C>T (TTN) XP_024308863.1:p.Arg15845Cys
XM_024453096.1:c.46966C>T (TTN) XP_024308864.1:p.Arg15656Cys
XM_024453097.1:c.44308C>T (TTN) XP_024308865.1:p.Arg14770Cys
XM_024453098.1:c.44227C>T (TTN) XP_024308866.1:p.Arg14743Cys
XM_024453099.1:c.25990C>T (TTN) XP_024308867.1:p.Arg8664Cys
XM_024453100.1:c.15844C>T (TTN) XP_024308868.1:p.Arg5282Cys