Canonical Allele Identifier: CA349552314
Community Standard Title: NM_001267550.2(TTN):c.54481C>T (p.Gln18161Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604206G>A , CM000664.2:g.178604206G>A GRCh38
NC_000002.11:g.179468933G>A , CM000664.1:g.179468933G>A GRCh37
NC_000002.10:g.179177178G>A NCBI36
NG_011618.3:g.231597C>T , LRG_391:g.231597C>T
NG_051363.1:g.86380G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54481C>T (TTN) MANE Select NP_001254479.2:p.Gln18161Ter
ENST00000589042.5:c.54481C>T (TTN) MANE Select ENSP00000467141.1:p.Gln18161Ter
NM_001256850.1:c.49558C>T (TTN) NP_001243779.1:p.Gln16520Ter
NM_003319.4:c.27286C>T (TTN) NP_003310.4:p.Gln9096Ter
NM_133378.4:c.46777C>T (TTN) NP_596869.4:p.Gln15593Ter
NM_133432.3:c.27661C>T (TTN) NP_597676.3:p.Gln9221Ter
NM_133437.4:c.27862C>T (TTN) NP_597681.4:p.Gln9288Ter
NR_038271.1:n.683-3961G>A (TTN-AS1)
NR_038272.1:n.3918-525G>A (TTN-AS1)
ENST00000342175.10:c.27862C>T (TTN) ENSP00000340554.6:p.Gln9288Ter
ENST00000342175.11:c.27862C>T (TTN) ENSP00000340554.6:p.Gln9288Ter
ENST00000342992.10:c.46777C>T (TTN) ENSP00000343764.6:p.Gln15593Ter
ENST00000342992.11:c.46777C>T (TTN) ENSP00000343764.6:p.Gln15593Ter
ENST00000359218.10:c.27661C>T (TTN) ENSP00000352154.5:p.Gln9221Ter
ENST00000359218.9:c.27661C>T (TTN) ENSP00000352154.5:p.Gln9221Ter
ENST00000460472.6:c.27286C>T (TTN) ENSP00000434586.1:p.Gln9096Ter
ENST00000591111.5:c.49558C>T (TTN) ENSP00000465570.1:p.Gln16520Ter
ENST00000615779.4:c.49558C>T (TTN) ENSP00000483597.1:p.Gln16520Ter
XM_011511729.1:c.53578C>T (TTN) XP_011510031.1:p.Gln17860Ter
XM_011511730.1:c.27472C>T (TTN) XP_011510032.1:p.Gln9158Ter
XM_011511731.1:c.27331C>T (TTN) XP_011510033.1:p.Gln9111Ter
XM_017004819.1:c.53374C>T (TTN) XP_016860308.1:p.Gln17792Ter
XM_017004820.1:c.48772C>T (TTN) XP_016860309.1:p.Gln16258Ter
XM_017004821.1:c.48769C>T (TTN) XP_016860310.1:p.Gln16257Ter
XM_017004822.1:c.45811C>T (TTN) XP_016860311.1:p.Gln15271Ter
XM_017004823.1:c.27427C>T (TTN) XP_016860312.1:p.Gln9143Ter
XM_024453094.1:c.48922C>T (TTN) XP_024308862.1:p.Gln16308Ter
XM_024453095.1:c.48919C>T (TTN) XP_024308863.1:p.Gln16307Ter
XM_024453096.1:c.48352C>T (TTN) XP_024308864.1:p.Gln16118Ter
XM_024453097.1:c.45694C>T (TTN) XP_024308865.1:p.Gln15232Ter
XM_024453098.1:c.45613C>T (TTN) XP_024308866.1:p.Gln15205Ter
XM_024453099.1:c.27376C>T (TTN) XP_024308867.1:p.Gln9126Ter
XM_024453100.1:c.17230C>T (TTN) XP_024308868.1:p.Gln5744Ter