Canonical Allele Identifier: CA349408676
Community Standard Title: NM_001267550.2(TTN):c.105486G>A (p.Trp35162Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531129C>T , CM000664.2:g.178531129C>T GRCh38
NC_000002.11:g.179395856C>T , CM000664.1:g.179395856C>T GRCh37
NC_000002.10:g.179104102C>T NCBI36
NG_011618.3:g.304674G>A , LRG_391:g.304674G>A
NG_051363.1:g.13303C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105486G>A (TTN) MANE Select NP_001254479.2:p.Trp35162Ter
ENST00000589042.5:c.105486G>A (TTN) MANE Select ENSP00000467141.1:p.Trp35162Ter
NM_001256850.1:c.100563G>A (TTN) NP_001243779.1:p.Trp33521Ter
NM_003319.4:c.78291G>A (TTN) NP_003310.4:p.Trp26097Ter
NM_133378.4:c.97782G>A (TTN) NP_596869.4:p.Trp32594Ter
NM_133432.3:c.78666G>A (TTN) NP_597676.3:p.Trp26222Ter
NM_133437.4:c.78867G>A (TTN) NP_597681.4:p.Trp26289Ter
NR_038271.1:n.446+7493C>T (TTN-AS1)
NR_038272.1:n.220-4603C>T (TTN-AS1)
ENST00000342175.10:c.78867G>A (TTN) ENSP00000340554.6:p.Trp26289Ter
ENST00000342175.11:c.78867G>A (TTN) ENSP00000340554.6:p.Trp26289Ter
ENST00000342992.10:c.97782G>A (TTN) ENSP00000343764.6:p.Trp32594Ter
ENST00000342992.11:c.97782G>A (TTN) ENSP00000343764.6:p.Trp32594Ter
ENST00000359218.10:c.78666G>A (TTN) ENSP00000352154.5:p.Trp26222Ter
ENST00000359218.9:c.78666G>A (TTN) ENSP00000352154.5:p.Trp26222Ter
ENST00000460472.6:c.78291G>A (TTN) ENSP00000434586.1:p.Trp26097Ter
ENST00000591111.5:c.100563G>A (TTN) ENSP00000465570.1:p.Trp33521Ter
ENST00000615779.4:c.100563G>A (TTN) ENSP00000483597.1:p.Trp33521Ter
XM_011511729.1:c.104583G>A (TTN) XP_011510031.1:p.Trp34861Ter
XM_011511730.1:c.78477G>A (TTN) XP_011510032.1:p.Trp26159Ter
XM_011511731.1:c.78336G>A (TTN) XP_011510033.1:p.Trp26112Ter
XM_017004819.1:c.104379G>A (TTN) XP_016860308.1:p.Trp34793Ter
XM_017004820.1:c.99777G>A (TTN) XP_016860309.1:p.Trp33259Ter
XM_017004821.1:c.99774G>A (TTN) XP_016860310.1:p.Trp33258Ter
XM_017004822.1:c.96816G>A (TTN) XP_016860311.1:p.Trp32272Ter
XM_017004823.1:c.78432G>A (TTN) XP_016860312.1:p.Trp26144Ter
XM_024453094.1:c.99927G>A (TTN) XP_024308862.1:p.Trp33309Ter
XM_024453095.1:c.99924G>A (TTN) XP_024308863.1:p.Trp33308Ter
XM_024453096.1:c.99357G>A (TTN) XP_024308864.1:p.Trp33119Ter
XM_024453097.1:c.96699G>A (TTN) XP_024308865.1:p.Trp32233Ter
XM_024453098.1:c.96618G>A (TTN) XP_024308866.1:p.Trp32206Ter
XM_024453099.1:c.78381G>A (TTN) XP_024308867.1:p.Trp26127Ter
XM_024453100.1:c.68235G>A (TTN) XP_024308868.1:p.Trp22745Ter