Canonical Allele Identifier: CA1986576
Community Standard Title: NM_001267550.2(TTN):c.97324G>A (p.Ala32442Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542432C>T , CM000664.2:g.178542432C>T GRCh38
NC_000002.11:g.179407159C>T , CM000664.1:g.179407159C>T GRCh37
NC_000002.10:g.179115405C>T NCBI36
NG_011618.3:g.293371G>A , LRG_391:g.293371G>A
NG_051363.1:g.24606C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.97324G>A (TTN) MANE Select NP_001254479.2:p.Ala32442Thr
ENST00000589042.5:c.97324G>A (TTN) MANE Select ENSP00000467141.1:p.Ala32442Thr
NM_001256850.1:c.92401G>A (TTN) NP_001243779.1:p.Ala30801Thr
NM_003319.4:c.70129G>A (TTN) NP_003310.4:p.Ala23377Thr
NM_133378.4:c.89620G>A (TTN) NP_596869.4:p.Ala29874Thr
NM_133432.3:c.70504G>A (TTN) NP_597676.3:p.Ala23502Thr
NM_133437.4:c.70705G>A (TTN) NP_597681.4:p.Ala23569Thr
NR_038271.1:n.446+18796C>T (TTN-AS1)
NR_038272.1:n.2043+71C>T (TTN-AS1)
ENST00000342175.10:c.70705G>A (TTN) ENSP00000340554.6:p.Ala23569Thr
ENST00000342175.11:c.70705G>A (TTN) ENSP00000340554.6:p.Ala23569Thr
ENST00000342992.10:c.89620G>A (TTN) ENSP00000343764.6:p.Ala29874Thr
ENST00000342992.11:c.89620G>A (TTN) ENSP00000343764.6:p.Ala29874Thr
ENST00000359218.10:c.70504G>A (TTN) ENSP00000352154.5:p.Ala23502Thr
ENST00000359218.9:c.70504G>A (TTN) ENSP00000352154.5:p.Ala23502Thr
ENST00000460472.6:c.70129G>A (TTN) ENSP00000434586.1:p.Ala23377Thr
ENST00000591111.5:c.92401G>A (TTN) ENSP00000465570.1:p.Ala30801Thr
ENST00000615779.4:c.92401G>A (TTN) ENSP00000483597.1:p.Ala30801Thr
XM_011511729.1:c.96421G>A (TTN) XP_011510031.1:p.Ala32141Thr
XM_011511730.1:c.70315G>A (TTN) XP_011510032.1:p.Ala23439Thr
XM_011511731.1:c.70174G>A (TTN) XP_011510033.1:p.Ala23392Thr
XM_017004819.1:c.96217G>A (TTN) XP_016860308.1:p.Ala32073Thr
XM_017004820.1:c.91615G>A (TTN) XP_016860309.1:p.Ala30539Thr
XM_017004821.1:c.91612G>A (TTN) XP_016860310.1:p.Ala30538Thr
XM_017004822.1:c.88654G>A (TTN) XP_016860311.1:p.Ala29552Thr
XM_017004823.1:c.70270G>A (TTN) XP_016860312.1:p.Ala23424Thr
XM_024453094.1:c.91765G>A (TTN) XP_024308862.1:p.Ala30589Thr
XM_024453095.1:c.91762G>A (TTN) XP_024308863.1:p.Ala30588Thr
XM_024453096.1:c.91195G>A (TTN) XP_024308864.1:p.Ala30399Thr
XM_024453097.1:c.88537G>A (TTN) XP_024308865.1:p.Ala29513Thr
XM_024453098.1:c.88456G>A (TTN) XP_024308866.1:p.Ala29486Thr
XM_024453099.1:c.70219G>A (TTN) XP_024308867.1:p.Ala23407Thr
XM_024453100.1:c.60073G>A (TTN) XP_024308868.1:p.Ala20025Thr