Canonical Allele Identifier: CA349428418
Community Standard Title: NM_001267550.2(TTN):c.66679C>T (p.Gln22227Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581589G>A , CM000664.2:g.178581589G>A GRCh38
NC_000002.11:g.179446316G>A , CM000664.1:g.179446316G>A GRCh37
NC_000002.10:g.179154562G>A NCBI36
NG_011618.3:g.254214C>T , LRG_391:g.254214C>T
NG_051363.1:g.63763G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66679C>T (TTN) MANE Select NP_001254479.2:p.Gln22227Ter
ENST00000589042.5:c.66679C>T (TTN) MANE Select ENSP00000467141.1:p.Gln22227Ter
NM_001256850.1:c.61756C>T (TTN) NP_001243779.1:p.Gln20586Ter
NM_003319.4:c.39484C>T (TTN) NP_003310.4:p.Gln13162Ter
NM_133378.4:c.58975C>T (TTN) NP_596869.4:p.Gln19659Ter
NM_133432.3:c.39859C>T (TTN) NP_597676.3:p.Gln13287Ter
NM_133437.4:c.40060C>T (TTN) NP_597681.4:p.Gln13354Ter
NR_038271.1:n.596+10140G>A (TTN-AS1)
NR_038272.1:n.2044-983G>A (TTN-AS1)
ENST00000342175.10:c.40060C>T (TTN) ENSP00000340554.6:p.Gln13354Ter
ENST00000342175.11:c.40060C>T (TTN) ENSP00000340554.6:p.Gln13354Ter
ENST00000342992.10:c.58975C>T (TTN) ENSP00000343764.6:p.Gln19659Ter
ENST00000342992.11:c.58975C>T (TTN) ENSP00000343764.6:p.Gln19659Ter
ENST00000359218.10:c.39859C>T (TTN) ENSP00000352154.5:p.Gln13287Ter
ENST00000359218.9:c.39859C>T (TTN) ENSP00000352154.5:p.Gln13287Ter
ENST00000460472.6:c.39484C>T (TTN) ENSP00000434586.1:p.Gln13162Ter
ENST00000591111.5:c.61756C>T (TTN) ENSP00000465570.1:p.Gln20586Ter
ENST00000615779.4:c.61756C>T (TTN) ENSP00000483597.1:p.Gln20586Ter
XM_011511729.1:c.65776C>T (TTN) XP_011510031.1:p.Gln21926Ter
XM_011511730.1:c.39670C>T (TTN) XP_011510032.1:p.Gln13224Ter
XM_011511731.1:c.39529C>T (TTN) XP_011510033.1:p.Gln13177Ter
XM_017004819.1:c.65572C>T (TTN) XP_016860308.1:p.Gln21858Ter
XM_017004820.1:c.60970C>T (TTN) XP_016860309.1:p.Gln20324Ter
XM_017004821.1:c.60967C>T (TTN) XP_016860310.1:p.Gln20323Ter
XM_017004822.1:c.58009C>T (TTN) XP_016860311.1:p.Gln19337Ter
XM_017004823.1:c.39625C>T (TTN) XP_016860312.1:p.Gln13209Ter
XM_024453094.1:c.61120C>T (TTN) XP_024308862.1:p.Gln20374Ter
XM_024453095.1:c.61117C>T (TTN) XP_024308863.1:p.Gln20373Ter
XM_024453096.1:c.60550C>T (TTN) XP_024308864.1:p.Gln20184Ter
XM_024453097.1:c.57892C>T (TTN) XP_024308865.1:p.Gln19298Ter
XM_024453098.1:c.57811C>T (TTN) XP_024308866.1:p.Gln19271Ter
XM_024453099.1:c.39574C>T (TTN) XP_024308867.1:p.Gln13192Ter
XM_024453100.1:c.29428C>T (TTN) XP_024308868.1:p.Gln9810Ter