Canonical Allele Identifier: CA349428669
Community Standard Title: NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581640G>A , CM000664.2:g.178581640G>A GRCh38
NC_000002.11:g.179446367G>A , CM000664.1:g.179446367G>A GRCh37
NC_000002.10:g.179154613G>A NCBI36
NG_011618.3:g.254163C>T , LRG_391:g.254163C>T
NG_051363.1:g.63814G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66628C>T (TTN) MANE Select NP_001254479.2:p.Gln22210Ter
ENST00000589042.5:c.66628C>T (TTN) MANE Select ENSP00000467141.1:p.Gln22210Ter
NM_001256850.1:c.61705C>T (TTN) NP_001243779.1:p.Gln20569Ter
NM_003319.4:c.39433C>T (TTN) NP_003310.4:p.Gln13145Ter
NM_133378.4:c.58924C>T (TTN) NP_596869.4:p.Gln19642Ter
NM_133432.3:c.39808C>T (TTN) NP_597676.3:p.Gln13270Ter
NM_133437.4:c.40009C>T (TTN) NP_597681.4:p.Gln13337Ter
NR_038271.1:n.596+10191G>A (TTN-AS1)
NR_038272.1:n.2044-932G>A (TTN-AS1)
ENST00000342175.10:c.40009C>T (TTN) ENSP00000340554.6:p.Gln13337Ter
ENST00000342175.11:c.40009C>T (TTN) ENSP00000340554.6:p.Gln13337Ter
ENST00000342992.10:c.58924C>T (TTN) ENSP00000343764.6:p.Gln19642Ter
ENST00000342992.11:c.58924C>T (TTN) ENSP00000343764.6:p.Gln19642Ter
ENST00000359218.10:c.39808C>T (TTN) ENSP00000352154.5:p.Gln13270Ter
ENST00000359218.9:c.39808C>T (TTN) ENSP00000352154.5:p.Gln13270Ter
ENST00000460472.6:c.39433C>T (TTN) ENSP00000434586.1:p.Gln13145Ter
ENST00000591111.5:c.61705C>T (TTN) ENSP00000465570.1:p.Gln20569Ter
ENST00000615779.4:c.61705C>T (TTN) ENSP00000483597.1:p.Gln20569Ter
XM_011511729.1:c.65725C>T (TTN) XP_011510031.1:p.Gln21909Ter
XM_011511730.1:c.39619C>T (TTN) XP_011510032.1:p.Gln13207Ter
XM_011511731.1:c.39478C>T (TTN) XP_011510033.1:p.Gln13160Ter
XM_017004819.1:c.65521C>T (TTN) XP_016860308.1:p.Gln21841Ter
XM_017004820.1:c.60919C>T (TTN) XP_016860309.1:p.Gln20307Ter
XM_017004821.1:c.60916C>T (TTN) XP_016860310.1:p.Gln20306Ter
XM_017004822.1:c.57958C>T (TTN) XP_016860311.1:p.Gln19320Ter
XM_017004823.1:c.39574C>T (TTN) XP_016860312.1:p.Gln13192Ter
XM_024453094.1:c.61069C>T (TTN) XP_024308862.1:p.Gln20357Ter
XM_024453095.1:c.61066C>T (TTN) XP_024308863.1:p.Gln20356Ter
XM_024453096.1:c.60499C>T (TTN) XP_024308864.1:p.Gln20167Ter
XM_024453097.1:c.57841C>T (TTN) XP_024308865.1:p.Gln19281Ter
XM_024453098.1:c.57760C>T (TTN) XP_024308866.1:p.Gln19254Ter
XM_024453099.1:c.39523C>T (TTN) XP_024308867.1:p.Gln13175Ter
XM_024453100.1:c.29377C>T (TTN) XP_024308868.1:p.Gln9793Ter