Canonical Allele Identifier: CA349553237
Community Standard Title: NM_001267550.2(TTN):c.54387G>A (p.Trp18129Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604300C>T , CM000664.2:g.178604300C>T GRCh38
NC_000002.11:g.179469027C>T , CM000664.1:g.179469027C>T GRCh37
NC_000002.10:g.179177272C>T NCBI36
NG_011618.3:g.231503G>A , LRG_391:g.231503G>A
NG_051363.1:g.86474C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54387G>A (TTN) MANE Select NP_001254479.2:p.Trp18129Ter
ENST00000589042.5:c.54387G>A (TTN) MANE Select ENSP00000467141.1:p.Trp18129Ter
NM_001256850.1:c.49464G>A (TTN) NP_001243779.1:p.Trp16488Ter
NM_003319.4:c.27192G>A (TTN) NP_003310.4:p.Trp9064Ter
NM_133378.4:c.46683G>A (TTN) NP_596869.4:p.Trp15561Ter
NM_133432.3:c.27567G>A (TTN) NP_597676.3:p.Trp9189Ter
NM_133437.4:c.27768G>A (TTN) NP_597681.4:p.Trp9256Ter
NR_038271.1:n.683-3867C>T (TTN-AS1)
NR_038272.1:n.3918-431C>T (TTN-AS1)
ENST00000342175.10:c.27768G>A (TTN) ENSP00000340554.6:p.Trp9256Ter
ENST00000342175.11:c.27768G>A (TTN) ENSP00000340554.6:p.Trp9256Ter
ENST00000342992.10:c.46683G>A (TTN) ENSP00000343764.6:p.Trp15561Ter
ENST00000342992.11:c.46683G>A (TTN) ENSP00000343764.6:p.Trp15561Ter
ENST00000359218.10:c.27567G>A (TTN) ENSP00000352154.5:p.Trp9189Ter
ENST00000359218.9:c.27567G>A (TTN) ENSP00000352154.5:p.Trp9189Ter
ENST00000460472.6:c.27192G>A (TTN) ENSP00000434586.1:p.Trp9064Ter
ENST00000591111.5:c.49464G>A (TTN) ENSP00000465570.1:p.Trp16488Ter
ENST00000615779.4:c.49464G>A (TTN) ENSP00000483597.1:p.Trp16488Ter
XM_011511729.1:c.53484G>A (TTN) XP_011510031.1:p.Trp17828Ter
XM_011511730.1:c.27378G>A (TTN) XP_011510032.1:p.Trp9126Ter
XM_011511731.1:c.27237G>A (TTN) XP_011510033.1:p.Trp9079Ter
XM_017004819.1:c.53280G>A (TTN) XP_016860308.1:p.Trp17760Ter
XM_017004820.1:c.48678G>A (TTN) XP_016860309.1:p.Trp16226Ter
XM_017004821.1:c.48675G>A (TTN) XP_016860310.1:p.Trp16225Ter
XM_017004822.1:c.45717G>A (TTN) XP_016860311.1:p.Trp15239Ter
XM_017004823.1:c.27333G>A (TTN) XP_016860312.1:p.Trp9111Ter
XM_024453094.1:c.48828G>A (TTN) XP_024308862.1:p.Trp16276Ter
XM_024453095.1:c.48825G>A (TTN) XP_024308863.1:p.Trp16275Ter
XM_024453096.1:c.48258G>A (TTN) XP_024308864.1:p.Trp16086Ter
XM_024453097.1:c.45600G>A (TTN) XP_024308865.1:p.Trp15200Ter
XM_024453098.1:c.45519G>A (TTN) XP_024308866.1:p.Trp15173Ter
XM_024453099.1:c.27282G>A (TTN) XP_024308867.1:p.Trp9094Ter
XM_024453100.1:c.17136G>A (TTN) XP_024308868.1:p.Trp5712Ter