Canonical Allele Identifier: CA1985929
Community Standard Title: NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178535508G>A , CM000664.2:g.178535508G>A GRCh38
NC_000002.11:g.179400235G>A , CM000664.1:g.179400235G>A GRCh37
NC_000002.10:g.179108481G>A NCBI36
NG_011618.3:g.300295C>T , LRG_391:g.300295C>T
NG_051363.1:g.17682G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101107C>T (TTN) MANE Select NP_001254479.2:p.Arg33703Ter
ENST00000589042.5:c.101107C>T (TTN) MANE Select ENSP00000467141.1:p.Arg33703Ter
NM_001256850.1:c.96184C>T (TTN) NP_001243779.1:p.Arg32062Ter
NM_003319.4:c.73912C>T (TTN) NP_003310.4:p.Arg24638Ter
NM_133378.4:c.93403C>T (TTN) NP_596869.4:p.Arg31135Ter
NM_133432.3:c.74287C>T (TTN) NP_597676.3:p.Arg24763Ter
NM_133437.4:c.74488C>T (TTN) NP_597681.4:p.Arg24830Ter
NR_038271.1:n.446+11872G>A (TTN-AS1)
NR_038272.1:n.220-224G>A (TTN-AS1)
ENST00000342175.10:c.74488C>T (TTN) ENSP00000340554.6:p.Arg24830Ter
ENST00000342175.11:c.74488C>T (TTN) ENSP00000340554.6:p.Arg24830Ter
ENST00000342992.10:c.93403C>T (TTN) ENSP00000343764.6:p.Arg31135Ter
ENST00000342992.11:c.93403C>T (TTN) ENSP00000343764.6:p.Arg31135Ter
ENST00000359218.10:c.74287C>T (TTN) ENSP00000352154.5:p.Arg24763Ter
ENST00000359218.9:c.74287C>T (TTN) ENSP00000352154.5:p.Arg24763Ter
ENST00000460472.6:c.73912C>T (TTN) ENSP00000434586.1:p.Arg24638Ter
ENST00000591111.5:c.96184C>T (TTN) ENSP00000465570.1:p.Arg32062Ter
ENST00000615779.4:c.96184C>T (TTN) ENSP00000483597.1:p.Arg32062Ter
XM_011511729.1:c.100204C>T (TTN) XP_011510031.1:p.Arg33402Ter
XM_011511730.1:c.74098C>T (TTN) XP_011510032.1:p.Arg24700Ter
XM_011511731.1:c.73957C>T (TTN) XP_011510033.1:p.Arg24653Ter
XM_017004819.1:c.100000C>T (TTN) XP_016860308.1:p.Arg33334Ter
XM_017004820.1:c.95398C>T (TTN) XP_016860309.1:p.Arg31800Ter
XM_017004821.1:c.95395C>T (TTN) XP_016860310.1:p.Arg31799Ter
XM_017004822.1:c.92437C>T (TTN) XP_016860311.1:p.Arg30813Ter
XM_017004823.1:c.74053C>T (TTN) XP_016860312.1:p.Arg24685Ter
XM_024453094.1:c.95548C>T (TTN) XP_024308862.1:p.Arg31850Ter
XM_024453095.1:c.95545C>T (TTN) XP_024308863.1:p.Arg31849Ter
XM_024453096.1:c.94978C>T (TTN) XP_024308864.1:p.Arg31660Ter
XM_024453097.1:c.92320C>T (TTN) XP_024308865.1:p.Arg30774Ter
XM_024453098.1:c.92239C>T (TTN) XP_024308866.1:p.Arg30747Ter
XM_024453099.1:c.74002C>T (TTN) XP_024308867.1:p.Arg24668Ter
XM_024453100.1:c.63856C>T (TTN) XP_024308868.1:p.Arg21286Ter