Canonical Allele Identifier: CA1987795
Community Standard Title: NM_001267550.2(TTN):c.90382A>T (p.Thr30128Ser)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552518T>A , CM000664.2:g.178552518T>A GRCh38
NC_000002.11:g.179417245T>A , CM000664.1:g.179417245T>A GRCh37
NC_000002.10:g.179125491T>A NCBI36
NG_011618.3:g.283285A>T , LRG_391:g.283285A>T
NG_051363.1:g.34692T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90382A>T (TTN) MANE Select NP_001254479.2:p.Thr30128Ser
ENST00000589042.5:c.90382A>T (TTN) MANE Select ENSP00000467141.1:p.Thr30128Ser
NM_001256850.1:c.85459A>T (TTN) NP_001243779.1:p.Thr28487Ser
NM_003319.4:c.63187A>T (TTN) NP_003310.4:p.Thr21063Ser
NM_133378.4:c.82678A>T (TTN) NP_596869.4:p.Thr27560Ser
NM_133432.3:c.63562A>T (TTN) NP_597676.3:p.Thr21188Ser
NM_133437.4:c.63763A>T (TTN) NP_597681.4:p.Thr21255Ser
NR_038271.1:n.447-18782T>A (TTN-AS1)
NR_038272.1:n.2043+10157T>A (TTN-AS1)
ENST00000342175.10:c.63763A>T (TTN) ENSP00000340554.6:p.Thr21255Ser
ENST00000342175.11:c.63763A>T (TTN) ENSP00000340554.6:p.Thr21255Ser
ENST00000342992.10:c.82678A>T (TTN) ENSP00000343764.6:p.Thr27560Ser
ENST00000342992.11:c.82678A>T (TTN) ENSP00000343764.6:p.Thr27560Ser
ENST00000359218.10:c.63562A>T (TTN) ENSP00000352154.5:p.Thr21188Ser
ENST00000359218.9:c.63562A>T (TTN) ENSP00000352154.5:p.Thr21188Ser
ENST00000460472.6:c.63187A>T (TTN) ENSP00000434586.1:p.Thr21063Ser
ENST00000591111.5:c.85459A>T (TTN) ENSP00000465570.1:p.Thr28487Ser
ENST00000615779.4:c.85459A>T (TTN) ENSP00000483597.1:p.Thr28487Ser
XM_011511729.1:c.89479A>T (TTN) XP_011510031.1:p.Thr29827Ser
XM_011511730.1:c.63373A>T (TTN) XP_011510032.1:p.Thr21125Ser
XM_011511731.1:c.63232A>T (TTN) XP_011510033.1:p.Thr21078Ser
XM_017004819.1:c.89275A>T (TTN) XP_016860308.1:p.Thr29759Ser
XM_017004820.1:c.84673A>T (TTN) XP_016860309.1:p.Thr28225Ser
XM_017004821.1:c.84670A>T (TTN) XP_016860310.1:p.Thr28224Ser
XM_017004822.1:c.81712A>T (TTN) XP_016860311.1:p.Thr27238Ser
XM_017004823.1:c.63328A>T (TTN) XP_016860312.1:p.Thr21110Ser
XM_024453094.1:c.84823A>T (TTN) XP_024308862.1:p.Thr28275Ser
XM_024453095.1:c.84820A>T (TTN) XP_024308863.1:p.Thr28274Ser
XM_024453096.1:c.84253A>T (TTN) XP_024308864.1:p.Thr28085Ser
XM_024453097.1:c.81595A>T (TTN) XP_024308865.1:p.Thr27199Ser
XM_024453098.1:c.81514A>T (TTN) XP_024308866.1:p.Thr27172Ser
XM_024453099.1:c.63277A>T (TTN) XP_024308867.1:p.Thr21093Ser
XM_024453100.1:c.53131A>T (TTN) XP_024308868.1:p.Thr17711Ser