Canonical Allele Identifier: CA349670562
Community Standard Title: NM_001267550.2(TTN):c.68993C>A (p.Ser22998Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577342G>T , CM000664.2:g.178577342G>T GRCh38
NC_000002.11:g.179442069G>T , CM000664.1:g.179442069G>T GRCh37
NC_000002.10:g.179150315G>T NCBI36
NG_011618.3:g.258461C>A , LRG_391:g.258461C>A
NG_051363.1:g.59516G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.68993C>A (TTN) MANE Select NP_001254479.2:p.Ser22998Ter
ENST00000589042.5:c.68993C>A (TTN) MANE Select ENSP00000467141.1:p.Ser22998Ter
NM_001256850.1:c.64070C>A (TTN) NP_001243779.1:p.Ser21357Ter
NM_003319.4:c.41798C>A (TTN) NP_003310.4:p.Ser13933Ter
NM_133378.4:c.61289C>A (TTN) NP_596869.4:p.Ser20430Ter
NM_133432.3:c.42173C>A (TTN) NP_597676.3:p.Ser14058Ter
NM_133437.4:c.42374C>A (TTN) NP_597681.4:p.Ser14125Ter
NR_038271.1:n.596+5893G>T (TTN-AS1)
NR_038272.1:n.2044-5230G>T (TTN-AS1)
ENST00000342175.10:c.42374C>A (TTN) ENSP00000340554.6:p.Ser14125Ter
ENST00000342175.11:c.42374C>A (TTN) ENSP00000340554.6:p.Ser14125Ter
ENST00000342992.10:c.61289C>A (TTN) ENSP00000343764.6:p.Ser20430Ter
ENST00000342992.11:c.61289C>A (TTN) ENSP00000343764.6:p.Ser20430Ter
ENST00000359218.10:c.42173C>A (TTN) ENSP00000352154.5:p.Ser14058Ter
ENST00000359218.9:c.42173C>A (TTN) ENSP00000352154.5:p.Ser14058Ter
ENST00000460472.6:c.41798C>A (TTN) ENSP00000434586.1:p.Ser13933Ter
ENST00000591111.5:c.64070C>A (TTN) ENSP00000465570.1:p.Ser21357Ter
ENST00000615779.4:c.64070C>A (TTN) ENSP00000483597.1:p.Ser21357Ter
XM_011511729.1:c.68090C>A (TTN) XP_011510031.1:p.Ser22697Ter
XM_011511730.1:c.41984C>A (TTN) XP_011510032.1:p.Ser13995Ter
XM_011511731.1:c.41843C>A (TTN) XP_011510033.1:p.Ser13948Ter
XM_017004819.1:c.67886C>A (TTN) XP_016860308.1:p.Ser22629Ter
XM_017004820.1:c.63284C>A (TTN) XP_016860309.1:p.Ser21095Ter
XM_017004821.1:c.63281C>A (TTN) XP_016860310.1:p.Ser21094Ter
XM_017004822.1:c.60323C>A (TTN) XP_016860311.1:p.Ser20108Ter
XM_017004823.1:c.41939C>A (TTN) XP_016860312.1:p.Ser13980Ter
XM_024453094.1:c.63434C>A (TTN) XP_024308862.1:p.Ser21145Ter
XM_024453095.1:c.63431C>A (TTN) XP_024308863.1:p.Ser21144Ter
XM_024453096.1:c.62864C>A (TTN) XP_024308864.1:p.Ser20955Ter
XM_024453097.1:c.60206C>A (TTN) XP_024308865.1:p.Ser20069Ter
XM_024453098.1:c.60125C>A (TTN) XP_024308866.1:p.Ser20042Ter
XM_024453099.1:c.41888C>A (TTN) XP_024308867.1:p.Ser13963Ter
XM_024453100.1:c.31742C>A (TTN) XP_024308868.1:p.Ser10581Ter