Canonical Allele Identifier: CA237930
Community Standard Title: NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604106C>T , CM000664.2:g.178604106C>T GRCh38
NC_000002.11:g.179468833C>T , CM000664.1:g.179468833C>T GRCh37
NC_000002.10:g.179177078C>T NCBI36
NG_011618.3:g.231697G>A , LRG_391:g.231697G>A
NG_051363.1:g.86280C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54581G>A (TTN) MANE Select NP_001254479.2:p.Gly18194Asp
ENST00000589042.5:c.54581G>A (TTN) MANE Select ENSP00000467141.1:p.Gly18194Asp
NM_001256850.1:c.49658G>A (TTN) NP_001243779.1:p.Gly16553Asp
NM_003319.4:c.27386G>A (TTN) NP_003310.4:p.Gly9129Asp
NM_133378.4:c.46877G>A (TTN) NP_596869.4:p.Gly15626Asp
NM_133432.3:c.27761G>A (TTN) NP_597676.3:p.Gly9254Asp
NM_133437.4:c.27962G>A (TTN) NP_597681.4:p.Gly9321Asp
NR_038271.1:n.683-4061C>T (TTN-AS1)
NR_038272.1:n.3918-625C>T (TTN-AS1)
ENST00000342175.10:c.27962G>A (TTN) ENSP00000340554.6:p.Gly9321Asp
ENST00000342175.11:c.27962G>A (TTN) ENSP00000340554.6:p.Gly9321Asp
ENST00000342992.10:c.46877G>A (TTN) ENSP00000343764.6:p.Gly15626Asp
ENST00000342992.11:c.46877G>A (TTN) ENSP00000343764.6:p.Gly15626Asp
ENST00000359218.10:c.27761G>A (TTN) ENSP00000352154.5:p.Gly9254Asp
ENST00000359218.9:c.27761G>A (TTN) ENSP00000352154.5:p.Gly9254Asp
ENST00000460472.6:c.27386G>A (TTN) ENSP00000434586.1:p.Gly9129Asp
ENST00000591111.5:c.49658G>A (TTN) ENSP00000465570.1:p.Gly16553Asp
ENST00000615779.4:c.49658G>A (TTN) ENSP00000483597.1:p.Gly16553Asp
XM_011511729.1:c.53678G>A (TTN) XP_011510031.1:p.Gly17893Asp
XM_011511730.1:c.27572G>A (TTN) XP_011510032.1:p.Gly9191Asp
XM_011511731.1:c.27431G>A (TTN) XP_011510033.1:p.Gly9144Asp
XM_017004819.1:c.53474G>A (TTN) XP_016860308.1:p.Gly17825Asp
XM_017004820.1:c.48872G>A (TTN) XP_016860309.1:p.Gly16291Asp
XM_017004821.1:c.48869G>A (TTN) XP_016860310.1:p.Gly16290Asp
XM_017004822.1:c.45911G>A (TTN) XP_016860311.1:p.Gly15304Asp
XM_017004823.1:c.27527G>A (TTN) XP_016860312.1:p.Gly9176Asp
XM_024453094.1:c.49022G>A (TTN) XP_024308862.1:p.Gly16341Asp
XM_024453095.1:c.49019G>A (TTN) XP_024308863.1:p.Gly16340Asp
XM_024453096.1:c.48452G>A (TTN) XP_024308864.1:p.Gly16151Asp
XM_024453097.1:c.45794G>A (TTN) XP_024308865.1:p.Gly15265Asp
XM_024453098.1:c.45713G>A (TTN) XP_024308866.1:p.Gly15238Asp
XM_024453099.1:c.27476G>A (TTN) XP_024308867.1:p.Gly9159Asp
XM_024453100.1:c.17330G>A (TTN) XP_024308868.1:p.Gly5777Asp