Canonical Allele Identifier: CA349423577
Community Standard Title: NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579678G>A , CM000664.2:g.178579678G>A GRCh38
NC_000002.11:g.179444405G>A , CM000664.1:g.179444405G>A GRCh37
NC_000002.10:g.179152651G>A NCBI36
NG_011618.3:g.256125C>T , LRG_391:g.256125C>T
NG_051363.1:g.61852G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67519C>T (TTN) MANE Select NP_001254479.2:p.Gln22507Ter
ENST00000589042.5:c.67519C>T (TTN) MANE Select ENSP00000467141.1:p.Gln22507Ter
NM_001256850.1:c.62596C>T (TTN) NP_001243779.1:p.Gln20866Ter
NM_003319.4:c.40324C>T (TTN) NP_003310.4:p.Gln13442Ter
NM_133378.4:c.59815C>T (TTN) NP_596869.4:p.Gln19939Ter
NM_133432.3:c.40699C>T (TTN) NP_597676.3:p.Gln13567Ter
NM_133437.4:c.40900C>T (TTN) NP_597681.4:p.Gln13634Ter
NR_038271.1:n.596+8229G>A (TTN-AS1)
NR_038272.1:n.2044-2894G>A (TTN-AS1)
ENST00000342175.10:c.40900C>T (TTN) ENSP00000340554.6:p.Gln13634Ter
ENST00000342175.11:c.40900C>T (TTN) ENSP00000340554.6:p.Gln13634Ter
ENST00000342992.10:c.59815C>T (TTN) ENSP00000343764.6:p.Gln19939Ter
ENST00000342992.11:c.59815C>T (TTN) ENSP00000343764.6:p.Gln19939Ter
ENST00000359218.10:c.40699C>T (TTN) ENSP00000352154.5:p.Gln13567Ter
ENST00000359218.9:c.40699C>T (TTN) ENSP00000352154.5:p.Gln13567Ter
ENST00000460472.6:c.40324C>T (TTN) ENSP00000434586.1:p.Gln13442Ter
ENST00000591111.5:c.62596C>T (TTN) ENSP00000465570.1:p.Gln20866Ter
ENST00000615779.4:c.62596C>T (TTN) ENSP00000483597.1:p.Gln20866Ter
XM_011511729.1:c.66616C>T (TTN) XP_011510031.1:p.Gln22206Ter
XM_011511730.1:c.40510C>T (TTN) XP_011510032.1:p.Gln13504Ter
XM_011511731.1:c.40369C>T (TTN) XP_011510033.1:p.Gln13457Ter
XM_017004819.1:c.66412C>T (TTN) XP_016860308.1:p.Gln22138Ter
XM_017004820.1:c.61810C>T (TTN) XP_016860309.1:p.Gln20604Ter
XM_017004821.1:c.61807C>T (TTN) XP_016860310.1:p.Gln20603Ter
XM_017004822.1:c.58849C>T (TTN) XP_016860311.1:p.Gln19617Ter
XM_017004823.1:c.40465C>T (TTN) XP_016860312.1:p.Gln13489Ter
XM_024453094.1:c.61960C>T (TTN) XP_024308862.1:p.Gln20654Ter
XM_024453095.1:c.61957C>T (TTN) XP_024308863.1:p.Gln20653Ter
XM_024453096.1:c.61390C>T (TTN) XP_024308864.1:p.Gln20464Ter
XM_024453097.1:c.58732C>T (TTN) XP_024308865.1:p.Gln19578Ter
XM_024453098.1:c.58651C>T (TTN) XP_024308866.1:p.Gln19551Ter
XM_024453099.1:c.40414C>T (TTN) XP_024308867.1:p.Gln13472Ter
XM_024453100.1:c.30268C>T (TTN) XP_024308868.1:p.Gln10090Ter