Canonical Allele Identifier: CA349399090
Community Standard Title: NM_001267550.2(TTN):c.107789G>A (p.Trp35930Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527199C>T , CM000664.2:g.178527199C>T GRCh38
NC_000002.11:g.179391926C>T , CM000664.1:g.179391926C>T GRCh37
NC_000002.10:g.179100172C>T NCBI36
NG_011618.3:g.308604G>A , LRG_391:g.308604G>A
NG_051363.1:g.9373C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.107789G>A (TTN) MANE Select NP_001254479.2:p.Trp35930Ter
ENST00000589042.5:c.107789G>A (TTN) MANE Select ENSP00000467141.1:p.Trp35930Ter
NM_001256850.1:c.102866G>A (TTN) NP_001243779.1:p.Trp34289Ter
NM_003319.4:c.80594G>A (TTN) NP_003310.4:p.Trp26865Ter
NM_133378.4:c.100085G>A (TTN) NP_596869.4:p.Trp33362Ter
NM_133432.3:c.80969G>A (TTN) NP_597676.3:p.Trp26990Ter
NM_133437.4:c.81170G>A (TTN) NP_597681.4:p.Trp27057Ter
NR_038271.1:n.446+3563C>T (TTN-AS1)
NR_038272.1:n.219+3563C>T (TTN-AS1)
ENST00000342175.10:c.81170G>A (TTN) ENSP00000340554.6:p.Trp27057Ter
ENST00000342175.11:c.81170G>A (TTN) ENSP00000340554.6:p.Trp27057Ter
ENST00000342992.10:c.100085G>A (TTN) ENSP00000343764.6:p.Trp33362Ter
ENST00000342992.11:c.100085G>A (TTN) ENSP00000343764.6:p.Trp33362Ter
ENST00000359218.10:c.80969G>A (TTN) ENSP00000352154.5:p.Trp26990Ter
ENST00000359218.9:c.80969G>A (TTN) ENSP00000352154.5:p.Trp26990Ter
ENST00000460472.6:c.80594G>A (TTN) ENSP00000434586.1:p.Trp26865Ter
ENST00000591111.5:c.102866G>A (TTN) ENSP00000465570.1:p.Trp34289Ter
ENST00000615779.4:c.102866G>A (TTN) ENSP00000483597.1:p.Trp34289Ter
XM_011511729.1:c.106886G>A (TTN) XP_011510031.1:p.Trp35629Ter
XM_011511730.1:c.80780G>A (TTN) XP_011510032.1:p.Trp26927Ter
XM_011511731.1:c.80639G>A (TTN) XP_011510033.1:p.Trp26880Ter
XM_017004819.1:c.106682G>A (TTN) XP_016860308.1:p.Trp35561Ter
XM_017004820.1:c.102080G>A (TTN) XP_016860309.1:p.Trp34027Ter
XM_017004821.1:c.102077G>A (TTN) XP_016860310.1:p.Trp34026Ter
XM_017004822.1:c.99119G>A (TTN) XP_016860311.1:p.Trp33040Ter
XM_017004823.1:c.80735G>A (TTN) XP_016860312.1:p.Trp26912Ter
XM_024453094.1:c.102230G>A (TTN) XP_024308862.1:p.Trp34077Ter
XM_024453095.1:c.102227G>A (TTN) XP_024308863.1:p.Trp34076Ter
XM_024453096.1:c.101660G>A (TTN) XP_024308864.1:p.Trp33887Ter
XM_024453097.1:c.99002G>A (TTN) XP_024308865.1:p.Trp33001Ter
XM_024453098.1:c.98921G>A (TTN) XP_024308866.1:p.Trp32974Ter
XM_024453099.1:c.80684G>A (TTN) XP_024308867.1:p.Trp26895Ter
XM_024453100.1:c.70538G>A (TTN) XP_024308868.1:p.Trp23513Ter