Canonical Allele Identifier: CA1985600
Community Standard Title: NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533160T>A , CM000664.2:g.178533160T>A GRCh38
NC_000002.11:g.179397887T>A , CM000664.1:g.179397887T>A GRCh37
NC_000002.10:g.179106133T>A NCBI36
NG_011618.3:g.302643A>T , LRG_391:g.302643A>T
NG_051363.1:g.15334T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103455A>T (TTN) MANE Select NP_001254479.2:p.Glu34485Asp
ENST00000589042.5:c.103455A>T (TTN) MANE Select ENSP00000467141.1:p.Glu34485Asp
NM_001256850.1:c.98532A>T (TTN) NP_001243779.1:p.Glu32844Asp
NM_003319.4:c.76260A>T (TTN) NP_003310.4:p.Glu25420Asp
NM_133378.4:c.95751A>T (TTN) NP_596869.4:p.Glu31917Asp
NM_133432.3:c.76635A>T (TTN) NP_597676.3:p.Glu25545Asp
NM_133437.4:c.76836A>T (TTN) NP_597681.4:p.Glu25612Asp
NR_038271.1:n.446+9524T>A (TTN-AS1)
NR_038272.1:n.220-2572T>A (TTN-AS1)
ENST00000342175.10:c.76836A>T (TTN) ENSP00000340554.6:p.Glu25612Asp
ENST00000342175.11:c.76836A>T (TTN) ENSP00000340554.6:p.Glu25612Asp
ENST00000342992.10:c.95751A>T (TTN) ENSP00000343764.6:p.Glu31917Asp
ENST00000342992.11:c.95751A>T (TTN) ENSP00000343764.6:p.Glu31917Asp
ENST00000359218.10:c.76635A>T (TTN) ENSP00000352154.5:p.Glu25545Asp
ENST00000359218.9:c.76635A>T (TTN) ENSP00000352154.5:p.Glu25545Asp
ENST00000460472.6:c.76260A>T (TTN) ENSP00000434586.1:p.Glu25420Asp
ENST00000591111.5:c.98532A>T (TTN) ENSP00000465570.1:p.Glu32844Asp
ENST00000615779.4:c.98532A>T (TTN) ENSP00000483597.1:p.Glu32844Asp
XM_011511729.1:c.102552A>T (TTN) XP_011510031.1:p.Glu34184Asp
XM_011511730.1:c.76446A>T (TTN) XP_011510032.1:p.Glu25482Asp
XM_011511731.1:c.76305A>T (TTN) XP_011510033.1:p.Glu25435Asp
XM_017004819.1:c.102348A>T (TTN) XP_016860308.1:p.Glu34116Asp
XM_017004820.1:c.97746A>T (TTN) XP_016860309.1:p.Glu32582Asp
XM_017004821.1:c.97743A>T (TTN) XP_016860310.1:p.Glu32581Asp
XM_017004822.1:c.94785A>T (TTN) XP_016860311.1:p.Glu31595Asp
XM_017004823.1:c.76401A>T (TTN) XP_016860312.1:p.Glu25467Asp
XM_024453094.1:c.97896A>T (TTN) XP_024308862.1:p.Glu32632Asp
XM_024453095.1:c.97893A>T (TTN) XP_024308863.1:p.Glu32631Asp
XM_024453096.1:c.97326A>T (TTN) XP_024308864.1:p.Glu32442Asp
XM_024453097.1:c.94668A>T (TTN) XP_024308865.1:p.Glu31556Asp
XM_024453098.1:c.94587A>T (TTN) XP_024308866.1:p.Glu31529Asp
XM_024453099.1:c.76350A>T (TTN) XP_024308867.1:p.Glu25450Asp
XM_024453100.1:c.66204A>T (TTN) XP_024308868.1:p.Glu22068Asp