Canonical Allele Identifier: CA349667324
Community Standard Title: NM_001267550.2(TTN):c.69613C>T (p.Gln23205Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576631G>A , CM000664.2:g.178576631G>A GRCh38
NC_000002.11:g.179441358G>A , CM000664.1:g.179441358G>A GRCh37
NC_000002.10:g.179149604G>A NCBI36
NG_011618.3:g.259172C>T , LRG_391:g.259172C>T
NG_051363.1:g.58805G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.69613C>T (TTN) MANE Select NP_001254479.2:p.Gln23205Ter
ENST00000589042.5:c.69613C>T (TTN) MANE Select ENSP00000467141.1:p.Gln23205Ter
NM_001256850.1:c.64690C>T (TTN) NP_001243779.1:p.Gln21564Ter
NM_003319.4:c.42418C>T (TTN) NP_003310.4:p.Gln14140Ter
NM_133378.4:c.61909C>T (TTN) NP_596869.4:p.Gln20637Ter
NM_133432.3:c.42793C>T (TTN) NP_597676.3:p.Gln14265Ter
NM_133437.4:c.42994C>T (TTN) NP_597681.4:p.Gln14332Ter
NR_038271.1:n.596+5182G>A (TTN-AS1)
NR_038272.1:n.2044-5941G>A (TTN-AS1)
ENST00000342175.10:c.42994C>T (TTN) ENSP00000340554.6:p.Gln14332Ter
ENST00000342175.11:c.42994C>T (TTN) ENSP00000340554.6:p.Gln14332Ter
ENST00000342992.10:c.61909C>T (TTN) ENSP00000343764.6:p.Gln20637Ter
ENST00000342992.11:c.61909C>T (TTN) ENSP00000343764.6:p.Gln20637Ter
ENST00000359218.10:c.42793C>T (TTN) ENSP00000352154.5:p.Gln14265Ter
ENST00000359218.9:c.42793C>T (TTN) ENSP00000352154.5:p.Gln14265Ter
ENST00000460472.6:c.42418C>T (TTN) ENSP00000434586.1:p.Gln14140Ter
ENST00000591111.5:c.64690C>T (TTN) ENSP00000465570.1:p.Gln21564Ter
ENST00000615779.4:c.64690C>T (TTN) ENSP00000483597.1:p.Gln21564Ter
XM_011511729.1:c.68710C>T (TTN) XP_011510031.1:p.Gln22904Ter
XM_011511730.1:c.42604C>T (TTN) XP_011510032.1:p.Gln14202Ter
XM_011511731.1:c.42463C>T (TTN) XP_011510033.1:p.Gln14155Ter
XM_017004819.1:c.68506C>T (TTN) XP_016860308.1:p.Gln22836Ter
XM_017004820.1:c.63904C>T (TTN) XP_016860309.1:p.Gln21302Ter
XM_017004821.1:c.63901C>T (TTN) XP_016860310.1:p.Gln21301Ter
XM_017004822.1:c.60943C>T (TTN) XP_016860311.1:p.Gln20315Ter
XM_017004823.1:c.42559C>T (TTN) XP_016860312.1:p.Gln14187Ter
XM_024453094.1:c.64054C>T (TTN) XP_024308862.1:p.Gln21352Ter
XM_024453095.1:c.64051C>T (TTN) XP_024308863.1:p.Gln21351Ter
XM_024453096.1:c.63484C>T (TTN) XP_024308864.1:p.Gln21162Ter
XM_024453097.1:c.60826C>T (TTN) XP_024308865.1:p.Gln20276Ter
XM_024453098.1:c.60745C>T (TTN) XP_024308866.1:p.Gln20249Ter
XM_024453099.1:c.42508C>T (TTN) XP_024308867.1:p.Gln14170Ter
XM_024453100.1:c.32362C>T (TTN) XP_024308868.1:p.Gln10788Ter