Canonical Allele Identifier: CA349407357
Community Standard Title: NM_001267550.2(TTN):c.105957G>A (p.Trp35319Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530658C>T , CM000664.2:g.178530658C>T GRCh38
NC_000002.11:g.179395385C>T , CM000664.1:g.179395385C>T GRCh37
NC_000002.10:g.179103631C>T NCBI36
NG_011618.3:g.305145G>A , LRG_391:g.305145G>A
NG_051363.1:g.12832C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105957G>A (TTN) MANE Select NP_001254479.2:p.Trp35319Ter
ENST00000589042.5:c.105957G>A (TTN) MANE Select ENSP00000467141.1:p.Trp35319Ter
NM_001256850.1:c.101034G>A (TTN) NP_001243779.1:p.Trp33678Ter
NM_003319.4:c.78762G>A (TTN) NP_003310.4:p.Trp26254Ter
NM_133378.4:c.98253G>A (TTN) NP_596869.4:p.Trp32751Ter
NM_133432.3:c.79137G>A (TTN) NP_597676.3:p.Trp26379Ter
NM_133437.4:c.79338G>A (TTN) NP_597681.4:p.Trp26446Ter
NR_038271.1:n.446+7022C>T (TTN-AS1)
NR_038272.1:n.220-5074C>T (TTN-AS1)
ENST00000342175.10:c.79338G>A (TTN) ENSP00000340554.6:p.Trp26446Ter
ENST00000342175.11:c.79338G>A (TTN) ENSP00000340554.6:p.Trp26446Ter
ENST00000342992.10:c.98253G>A (TTN) ENSP00000343764.6:p.Trp32751Ter
ENST00000342992.11:c.98253G>A (TTN) ENSP00000343764.6:p.Trp32751Ter
ENST00000359218.10:c.79137G>A (TTN) ENSP00000352154.5:p.Trp26379Ter
ENST00000359218.9:c.79137G>A (TTN) ENSP00000352154.5:p.Trp26379Ter
ENST00000460472.6:c.78762G>A (TTN) ENSP00000434586.1:p.Trp26254Ter
ENST00000591111.5:c.101034G>A (TTN) ENSP00000465570.1:p.Trp33678Ter
ENST00000615779.4:c.101034G>A (TTN) ENSP00000483597.1:p.Trp33678Ter
XM_011511729.1:c.105054G>A (TTN) XP_011510031.1:p.Trp35018Ter
XM_011511730.1:c.78948G>A (TTN) XP_011510032.1:p.Trp26316Ter
XM_011511731.1:c.78807G>A (TTN) XP_011510033.1:p.Trp26269Ter
XM_017004819.1:c.104850G>A (TTN) XP_016860308.1:p.Trp34950Ter
XM_017004820.1:c.100248G>A (TTN) XP_016860309.1:p.Trp33416Ter
XM_017004821.1:c.100245G>A (TTN) XP_016860310.1:p.Trp33415Ter
XM_017004822.1:c.97287G>A (TTN) XP_016860311.1:p.Trp32429Ter
XM_017004823.1:c.78903G>A (TTN) XP_016860312.1:p.Trp26301Ter
XM_024453094.1:c.100398G>A (TTN) XP_024308862.1:p.Trp33466Ter
XM_024453095.1:c.100395G>A (TTN) XP_024308863.1:p.Trp33465Ter
XM_024453096.1:c.99828G>A (TTN) XP_024308864.1:p.Trp33276Ter
XM_024453097.1:c.97170G>A (TTN) XP_024308865.1:p.Trp32390Ter
XM_024453098.1:c.97089G>A (TTN) XP_024308866.1:p.Trp32363Ter
XM_024453099.1:c.78852G>A (TTN) XP_024308867.1:p.Trp26284Ter
XM_024453100.1:c.68706G>A (TTN) XP_024308868.1:p.Trp22902Ter