Canonical Allele Identifier: CA60971340
Community Standard Title: NM_001267550.2(TTN):c.58799G>A (p.Trp19600Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593409C>T , CM000664.2:g.178593409C>T GRCh38
NC_000002.11:g.179458136C>T , CM000664.1:g.179458136C>T GRCh37
NC_000002.10:g.179166382C>T NCBI36
NG_011618.3:g.242394G>A , LRG_391:g.242394G>A
NG_051363.1:g.75583C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.58799G>A (TTN) MANE Select NP_001254479.2:p.Trp19600Ter
ENST00000589042.5:c.58799G>A (TTN) MANE Select ENSP00000467141.1:p.Trp19600Ter
NM_001256850.1:c.53876G>A (TTN) NP_001243779.1:p.Trp17959Ter
NM_003319.4:c.31604G>A (TTN) NP_003310.4:p.Trp10535Ter
NM_133378.4:c.51095G>A (TTN) NP_596869.4:p.Trp17032Ter
NM_133432.3:c.31979G>A (TTN) NP_597676.3:p.Trp10660Ter
NM_133437.4:c.32180G>A (TTN) NP_597681.4:p.Trp10727Ter
NR_038271.1:n.597-4187C>T (TTN-AS1)
NR_038272.1:n.3364+2095C>T (TTN-AS1)
ENST00000342175.10:c.32180G>A (TTN) ENSP00000340554.6:p.Trp10727Ter
ENST00000342175.11:c.32180G>A (TTN) ENSP00000340554.6:p.Trp10727Ter
ENST00000342992.10:c.51095G>A (TTN) ENSP00000343764.6:p.Trp17032Ter
ENST00000342992.11:c.51095G>A (TTN) ENSP00000343764.6:p.Trp17032Ter
ENST00000359218.10:c.31979G>A (TTN) ENSP00000352154.5:p.Trp10660Ter
ENST00000359218.9:c.31979G>A (TTN) ENSP00000352154.5:p.Trp10660Ter
ENST00000460472.6:c.31604G>A (TTN) ENSP00000434586.1:p.Trp10535Ter
ENST00000591111.5:c.53876G>A (TTN) ENSP00000465570.1:p.Trp17959Ter
ENST00000615779.4:c.53876G>A (TTN) ENSP00000483597.1:p.Trp17959Ter
XM_011511729.1:c.57896G>A (TTN) XP_011510031.1:p.Trp19299Ter
XM_011511730.1:c.31790G>A (TTN) XP_011510032.1:p.Trp10597Ter
XM_011511731.1:c.31649G>A (TTN) XP_011510033.1:p.Trp10550Ter
XM_017004819.1:c.57692G>A (TTN) XP_016860308.1:p.Trp19231Ter
XM_017004820.1:c.53090G>A (TTN) XP_016860309.1:p.Trp17697Ter
XM_017004821.1:c.53087G>A (TTN) XP_016860310.1:p.Trp17696Ter
XM_017004822.1:c.50129G>A (TTN) XP_016860311.1:p.Trp16710Ter
XM_017004823.1:c.31745G>A (TTN) XP_016860312.1:p.Trp10582Ter
XM_024453094.1:c.53240G>A (TTN) XP_024308862.1:p.Trp17747Ter
XM_024453095.1:c.53237G>A (TTN) XP_024308863.1:p.Trp17746Ter
XM_024453096.1:c.52670G>A (TTN) XP_024308864.1:p.Trp17557Ter
XM_024453097.1:c.50012G>A (TTN) XP_024308865.1:p.Trp16671Ter
XM_024453098.1:c.49931G>A (TTN) XP_024308866.1:p.Trp16644Ter
XM_024453099.1:c.31694G>A (TTN) XP_024308867.1:p.Trp10565Ter
XM_024453100.1:c.21548G>A (TTN) XP_024308868.1:p.Trp7183Ter