Canonical Allele Identifier: CA430101523
Community Standard Title: NM_001267550.2(TTN):c.95598C>T (p.Thr31866=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545512G>A , CM000664.2:g.178545512G>A GRCh38
NC_000002.11:g.179410239G>A , CM000664.1:g.179410239G>A GRCh37
NC_000002.10:g.179118485G>A NCBI36
NG_011618.3:g.290291C>T , LRG_391:g.290291C>T
NG_051363.1:g.27686G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95598C>T (TTN) MANE Select NP_001254479.2:p.Thr31866=
ENST00000589042.5:c.95598C>T (TTN) MANE Select ENSP00000467141.1:p.Thr31866=
NM_001256850.1:c.90675C>T (TTN) NP_001243779.1:p.Thr30225=
NM_003319.4:c.68403C>T (TTN) NP_003310.4:p.Thr22801=
NM_133378.4:c.87894C>T (TTN) NP_596869.4:p.Thr29298=
NM_133432.3:c.68778C>T (TTN) NP_597676.3:p.Thr22926=
NM_133437.4:c.68979C>T (TTN) NP_597681.4:p.Thr22993=
NR_038271.1:n.446+21876G>A (TTN-AS1)
NR_038272.1:n.2043+3151G>A (TTN-AS1)
ENST00000342175.10:c.68979C>T (TTN) ENSP00000340554.6:p.Thr22993=
ENST00000342175.11:c.68979C>T (TTN) ENSP00000340554.6:p.Thr22993=
ENST00000342992.10:c.87894C>T (TTN) ENSP00000343764.6:p.Thr29298=
ENST00000342992.11:c.87894C>T (TTN) ENSP00000343764.6:p.Thr29298=
ENST00000359218.10:c.68778C>T (TTN) ENSP00000352154.5:p.Thr22926=
ENST00000359218.9:c.68778C>T (TTN) ENSP00000352154.5:p.Thr22926=
ENST00000460472.6:c.68403C>T (TTN) ENSP00000434586.1:p.Thr22801=
ENST00000591111.5:c.90675C>T (TTN) ENSP00000465570.1:p.Thr30225=
ENST00000615779.4:c.90675C>T (TTN) ENSP00000483597.1:p.Thr30225=
XM_011511729.1:c.94695C>T (TTN) XP_011510031.1:p.Thr31565=
XM_011511730.1:c.68589C>T (TTN) XP_011510032.1:p.Thr22863=
XM_011511731.1:c.68448C>T (TTN) XP_011510033.1:p.Thr22816=
XM_017004819.1:c.94491C>T (TTN) XP_016860308.1:p.Thr31497=
XM_017004820.1:c.89889C>T (TTN) XP_016860309.1:p.Thr29963=
XM_017004821.1:c.89886C>T (TTN) XP_016860310.1:p.Thr29962=
XM_017004822.1:c.86928C>T (TTN) XP_016860311.1:p.Thr28976=
XM_017004823.1:c.68544C>T (TTN) XP_016860312.1:p.Thr22848=
XM_024453094.1:c.90039C>T (TTN) XP_024308862.1:p.Thr30013=
XM_024453095.1:c.90036C>T (TTN) XP_024308863.1:p.Thr30012=
XM_024453096.1:c.89469C>T (TTN) XP_024308864.1:p.Thr29823=
XM_024453097.1:c.86811C>T (TTN) XP_024308865.1:p.Thr28937=
XM_024453098.1:c.86730C>T (TTN) XP_024308866.1:p.Thr28910=
XM_024453099.1:c.68493C>T (TTN) XP_024308867.1:p.Thr22831=
XM_024453100.1:c.58347C>T (TTN) XP_024308868.1:p.Thr19449=