Canonical Allele Identifier: CA349569287
Community Standard Title: NM_001267550.2(TTN):c.83126G>A (p.Trp27709Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563006C>T , CM000664.2:g.178563006C>T GRCh38
NC_000002.11:g.179427733C>T , CM000664.1:g.179427733C>T GRCh37
NC_000002.10:g.179135979C>T NCBI36
NG_011618.3:g.272797G>A , LRG_391:g.272797G>A
NG_051363.1:g.45180C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83126G>A (TTN) MANE Select NP_001254479.2:p.Trp27709Ter
ENST00000589042.5:c.83126G>A (TTN) MANE Select ENSP00000467141.1:p.Trp27709Ter
NM_001256850.1:c.78203G>A (TTN) NP_001243779.1:p.Trp26068Ter
NM_003319.4:c.55931G>A (TTN) NP_003310.4:p.Trp18644Ter
NM_133378.4:c.75422G>A (TTN) NP_596869.4:p.Trp25141Ter
NM_133432.3:c.56306G>A (TTN) NP_597676.3:p.Trp18769Ter
NM_133437.4:c.56507G>A (TTN) NP_597681.4:p.Trp18836Ter
NR_038271.1:n.447-8294C>T (TTN-AS1)
NR_038272.1:n.2044-19566C>T (TTN-AS1)
ENST00000342175.10:c.56507G>A (TTN) ENSP00000340554.6:p.Trp18836Ter
ENST00000342175.11:c.56507G>A (TTN) ENSP00000340554.6:p.Trp18836Ter
ENST00000342992.10:c.75422G>A (TTN) ENSP00000343764.6:p.Trp25141Ter
ENST00000342992.11:c.75422G>A (TTN) ENSP00000343764.6:p.Trp25141Ter
ENST00000359218.10:c.56306G>A (TTN) ENSP00000352154.5:p.Trp18769Ter
ENST00000359218.9:c.56306G>A (TTN) ENSP00000352154.5:p.Trp18769Ter
ENST00000460472.6:c.55931G>A (TTN) ENSP00000434586.1:p.Trp18644Ter
ENST00000591111.5:c.78203G>A (TTN) ENSP00000465570.1:p.Trp26068Ter
ENST00000615779.4:c.78203G>A (TTN) ENSP00000483597.1:p.Trp26068Ter
XM_011511729.1:c.82223G>A (TTN) XP_011510031.1:p.Trp27408Ter
XM_011511730.1:c.56117G>A (TTN) XP_011510032.1:p.Trp18706Ter
XM_011511731.1:c.55976G>A (TTN) XP_011510033.1:p.Trp18659Ter
XM_017004819.1:c.82019G>A (TTN) XP_016860308.1:p.Trp27340Ter
XM_017004820.1:c.77417G>A (TTN) XP_016860309.1:p.Trp25806Ter
XM_017004821.1:c.77414G>A (TTN) XP_016860310.1:p.Trp25805Ter
XM_017004822.1:c.74456G>A (TTN) XP_016860311.1:p.Trp24819Ter
XM_017004823.1:c.56072G>A (TTN) XP_016860312.1:p.Trp18691Ter
XM_024453094.1:c.77567G>A (TTN) XP_024308862.1:p.Trp25856Ter
XM_024453095.1:c.77564G>A (TTN) XP_024308863.1:p.Trp25855Ter
XM_024453096.1:c.76997G>A (TTN) XP_024308864.1:p.Trp25666Ter
XM_024453097.1:c.74339G>A (TTN) XP_024308865.1:p.Trp24780Ter
XM_024453098.1:c.74258G>A (TTN) XP_024308866.1:p.Trp24753Ter
XM_024453099.1:c.56021G>A (TTN) XP_024308867.1:p.Trp18674Ter
XM_024453100.1:c.45875G>A (TTN) XP_024308868.1:p.Trp15292Ter