Canonical Allele Identifier: CA349572969
Community Standard Title: NM_001267550.2(TTN):c.82547G>A (p.Trp27516Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563585C>T , CM000664.2:g.178563585C>T GRCh38
NC_000002.11:g.179428312C>T , CM000664.1:g.179428312C>T GRCh37
NC_000002.10:g.179136558C>T NCBI36
NG_011618.3:g.272218G>A , LRG_391:g.272218G>A
NG_051363.1:g.45759C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82547G>A (TTN) MANE Select NP_001254479.2:p.Trp27516Ter
ENST00000589042.5:c.82547G>A (TTN) MANE Select ENSP00000467141.1:p.Trp27516Ter
NM_001256850.1:c.77624G>A (TTN) NP_001243779.1:p.Trp25875Ter
NM_003319.4:c.55352G>A (TTN) NP_003310.4:p.Trp18451Ter
NM_133378.4:c.74843G>A (TTN) NP_596869.4:p.Trp24948Ter
NM_133432.3:c.55727G>A (TTN) NP_597676.3:p.Trp18576Ter
NM_133437.4:c.55928G>A (TTN) NP_597681.4:p.Trp18643Ter
NR_038271.1:n.447-7715C>T (TTN-AS1)
NR_038272.1:n.2044-18987C>T (TTN-AS1)
ENST00000342175.10:c.55928G>A (TTN) ENSP00000340554.6:p.Trp18643Ter
ENST00000342175.11:c.55928G>A (TTN) ENSP00000340554.6:p.Trp18643Ter
ENST00000342992.10:c.74843G>A (TTN) ENSP00000343764.6:p.Trp24948Ter
ENST00000342992.11:c.74843G>A (TTN) ENSP00000343764.6:p.Trp24948Ter
ENST00000359218.10:c.55727G>A (TTN) ENSP00000352154.5:p.Trp18576Ter
ENST00000359218.9:c.55727G>A (TTN) ENSP00000352154.5:p.Trp18576Ter
ENST00000460472.6:c.55352G>A (TTN) ENSP00000434586.1:p.Trp18451Ter
ENST00000591111.5:c.77624G>A (TTN) ENSP00000465570.1:p.Trp25875Ter
ENST00000615779.4:c.77624G>A (TTN) ENSP00000483597.1:p.Trp25875Ter
XM_011511729.1:c.81644G>A (TTN) XP_011510031.1:p.Trp27215Ter
XM_011511730.1:c.55538G>A (TTN) XP_011510032.1:p.Trp18513Ter
XM_011511731.1:c.55397G>A (TTN) XP_011510033.1:p.Trp18466Ter
XM_017004819.1:c.81440G>A (TTN) XP_016860308.1:p.Trp27147Ter
XM_017004820.1:c.76838G>A (TTN) XP_016860309.1:p.Trp25613Ter
XM_017004821.1:c.76835G>A (TTN) XP_016860310.1:p.Trp25612Ter
XM_017004822.1:c.73877G>A (TTN) XP_016860311.1:p.Trp24626Ter
XM_017004823.1:c.55493G>A (TTN) XP_016860312.1:p.Trp18498Ter
XM_024453094.1:c.76988G>A (TTN) XP_024308862.1:p.Trp25663Ter
XM_024453095.1:c.76985G>A (TTN) XP_024308863.1:p.Trp25662Ter
XM_024453096.1:c.76418G>A (TTN) XP_024308864.1:p.Trp25473Ter
XM_024453097.1:c.73760G>A (TTN) XP_024308865.1:p.Trp24587Ter
XM_024453098.1:c.73679G>A (TTN) XP_024308866.1:p.Trp24560Ter
XM_024453099.1:c.55442G>A (TTN) XP_024308867.1:p.Trp18481Ter
XM_024453100.1:c.45296G>A (TTN) XP_024308868.1:p.Trp15099Ter