Canonical Allele Identifier: CA60991660
Community Standard Title: NM_001267550.2(TTN):c.78110G>A (p.Trp26037Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568022C>T , CM000664.2:g.178568022C>T GRCh38
NC_000002.11:g.179432749C>T , CM000664.1:g.179432749C>T GRCh37
NC_000002.10:g.179140995C>T NCBI36
NG_011618.3:g.267781G>A , LRG_391:g.267781G>A
NG_051363.1:g.50196C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.78110G>A (TTN) MANE Select NP_001254479.2:p.Trp26037Ter
ENST00000589042.5:c.78110G>A (TTN) MANE Select ENSP00000467141.1:p.Trp26037Ter
NM_001256850.1:c.73187G>A (TTN) NP_001243779.1:p.Trp24396Ter
NM_003319.4:c.50915G>A (TTN) NP_003310.4:p.Trp16972Ter
NM_133378.4:c.70406G>A (TTN) NP_596869.4:p.Trp23469Ter
NM_133432.3:c.51290G>A (TTN) NP_597676.3:p.Trp17097Ter
NM_133437.4:c.51491G>A (TTN) NP_597681.4:p.Trp17164Ter
NR_038271.1:n.447-3278C>T (TTN-AS1)
NR_038272.1:n.2044-14550C>T (TTN-AS1)
ENST00000342175.10:c.51491G>A (TTN) ENSP00000340554.6:p.Trp17164Ter
ENST00000342175.11:c.51491G>A (TTN) ENSP00000340554.6:p.Trp17164Ter
ENST00000342992.10:c.70406G>A (TTN) ENSP00000343764.6:p.Trp23469Ter
ENST00000342992.11:c.70406G>A (TTN) ENSP00000343764.6:p.Trp23469Ter
ENST00000359218.10:c.51290G>A (TTN) ENSP00000352154.5:p.Trp17097Ter
ENST00000359218.9:c.51290G>A (TTN) ENSP00000352154.5:p.Trp17097Ter
ENST00000460472.6:c.50915G>A (TTN) ENSP00000434586.1:p.Trp16972Ter
ENST00000591111.5:c.73187G>A (TTN) ENSP00000465570.1:p.Trp24396Ter
ENST00000615779.4:c.73187G>A (TTN) ENSP00000483597.1:p.Trp24396Ter
XM_011511729.1:c.77207G>A (TTN) XP_011510031.1:p.Trp25736Ter
XM_011511730.1:c.51101G>A (TTN) XP_011510032.1:p.Trp17034Ter
XM_011511731.1:c.50960G>A (TTN) XP_011510033.1:p.Trp16987Ter
XM_017004819.1:c.77003G>A (TTN) XP_016860308.1:p.Trp25668Ter
XM_017004820.1:c.72401G>A (TTN) XP_016860309.1:p.Trp24134Ter
XM_017004821.1:c.72398G>A (TTN) XP_016860310.1:p.Trp24133Ter
XM_017004822.1:c.69440G>A (TTN) XP_016860311.1:p.Trp23147Ter
XM_017004823.1:c.51056G>A (TTN) XP_016860312.1:p.Trp17019Ter
XM_024453094.1:c.72551G>A (TTN) XP_024308862.1:p.Trp24184Ter
XM_024453095.1:c.72548G>A (TTN) XP_024308863.1:p.Trp24183Ter
XM_024453096.1:c.71981G>A (TTN) XP_024308864.1:p.Trp23994Ter
XM_024453097.1:c.69323G>A (TTN) XP_024308865.1:p.Trp23108Ter
XM_024453098.1:c.69242G>A (TTN) XP_024308866.1:p.Trp23081Ter
XM_024453099.1:c.51005G>A (TTN) XP_024308867.1:p.Trp17002Ter
XM_024453100.1:c.40859G>A (TTN) XP_024308868.1:p.Trp13620Ter