Canonical Allele Identifier: CA349550920
Community Standard Title: NM_001267550.2(TTN):c.54605G>A (p.Trp18202Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604082C>T , CM000664.2:g.178604082C>T GRCh38
NC_000002.11:g.179468809C>T , CM000664.1:g.179468809C>T GRCh37
NC_000002.10:g.179177054C>T NCBI36
NG_011618.3:g.231721G>A , LRG_391:g.231721G>A
NG_051363.1:g.86256C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54605G>A (TTN) MANE Select NP_001254479.2:p.Trp18202Ter
ENST00000589042.5:c.54605G>A (TTN) MANE Select ENSP00000467141.1:p.Trp18202Ter
NM_001256850.1:c.49682G>A (TTN) NP_001243779.1:p.Trp16561Ter
NM_003319.4:c.27410G>A (TTN) NP_003310.4:p.Trp9137Ter
NM_133378.4:c.46901G>A (TTN) NP_596869.4:p.Trp15634Ter
NM_133432.3:c.27785G>A (TTN) NP_597676.3:p.Trp9262Ter
NM_133437.4:c.27986G>A (TTN) NP_597681.4:p.Trp9329Ter
NR_038271.1:n.683-4085C>T (TTN-AS1)
NR_038272.1:n.3918-649C>T (TTN-AS1)
ENST00000342175.10:c.27986G>A (TTN) ENSP00000340554.6:p.Trp9329Ter
ENST00000342175.11:c.27986G>A (TTN) ENSP00000340554.6:p.Trp9329Ter
ENST00000342992.10:c.46901G>A (TTN) ENSP00000343764.6:p.Trp15634Ter
ENST00000342992.11:c.46901G>A (TTN) ENSP00000343764.6:p.Trp15634Ter
ENST00000359218.10:c.27785G>A (TTN) ENSP00000352154.5:p.Trp9262Ter
ENST00000359218.9:c.27785G>A (TTN) ENSP00000352154.5:p.Trp9262Ter
ENST00000460472.6:c.27410G>A (TTN) ENSP00000434586.1:p.Trp9137Ter
ENST00000591111.5:c.49682G>A (TTN) ENSP00000465570.1:p.Trp16561Ter
ENST00000615779.4:c.49682G>A (TTN) ENSP00000483597.1:p.Trp16561Ter
XM_011511729.1:c.53702G>A (TTN) XP_011510031.1:p.Trp17901Ter
XM_011511730.1:c.27596G>A (TTN) XP_011510032.1:p.Trp9199Ter
XM_011511731.1:c.27455G>A (TTN) XP_011510033.1:p.Trp9152Ter
XM_017004819.1:c.53498G>A (TTN) XP_016860308.1:p.Trp17833Ter
XM_017004820.1:c.48896G>A (TTN) XP_016860309.1:p.Trp16299Ter
XM_017004821.1:c.48893G>A (TTN) XP_016860310.1:p.Trp16298Ter
XM_017004822.1:c.45935G>A (TTN) XP_016860311.1:p.Trp15312Ter
XM_017004823.1:c.27551G>A (TTN) XP_016860312.1:p.Trp9184Ter
XM_024453094.1:c.49046G>A (TTN) XP_024308862.1:p.Trp16349Ter
XM_024453095.1:c.49043G>A (TTN) XP_024308863.1:p.Trp16348Ter
XM_024453096.1:c.48476G>A (TTN) XP_024308864.1:p.Trp16159Ter
XM_024453097.1:c.45818G>A (TTN) XP_024308865.1:p.Trp15273Ter
XM_024453098.1:c.45737G>A (TTN) XP_024308866.1:p.Trp15246Ter
XM_024453099.1:c.27500G>A (TTN) XP_024308867.1:p.Trp9167Ter
XM_024453100.1:c.17354G>A (TTN) XP_024308868.1:p.Trp5785Ter