Canonical Allele Identifier: CA349418799
Community Standard Title: NM_001267550.2(TTN):c.101953G>T (p.Glu33985Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534662C>A , CM000664.2:g.178534662C>A GRCh38
NC_000002.11:g.179399389C>A , CM000664.1:g.179399389C>A GRCh37
NC_000002.10:g.179107635C>A NCBI36
NG_011618.3:g.301141G>T , LRG_391:g.301141G>T
NG_051363.1:g.16836C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101953G>T (TTN) MANE Select NP_001254479.2:p.Glu33985Ter
ENST00000589042.5:c.101953G>T (TTN) MANE Select ENSP00000467141.1:p.Glu33985Ter
NM_001256850.1:c.97030G>T (TTN) NP_001243779.1:p.Glu32344Ter
NM_003319.4:c.74758G>T (TTN) NP_003310.4:p.Glu24920Ter
NM_133378.4:c.94249G>T (TTN) NP_596869.4:p.Glu31417Ter
NM_133432.3:c.75133G>T (TTN) NP_597676.3:p.Glu25045Ter
NM_133437.4:c.75334G>T (TTN) NP_597681.4:p.Glu25112Ter
NR_038271.1:n.446+11026C>A (TTN-AS1)
NR_038272.1:n.220-1070C>A (TTN-AS1)
ENST00000342175.10:c.75334G>T (TTN) ENSP00000340554.6:p.Glu25112Ter
ENST00000342175.11:c.75334G>T (TTN) ENSP00000340554.6:p.Glu25112Ter
ENST00000342992.10:c.94249G>T (TTN) ENSP00000343764.6:p.Glu31417Ter
ENST00000342992.11:c.94249G>T (TTN) ENSP00000343764.6:p.Glu31417Ter
ENST00000359218.10:c.75133G>T (TTN) ENSP00000352154.5:p.Glu25045Ter
ENST00000359218.9:c.75133G>T (TTN) ENSP00000352154.5:p.Glu25045Ter
ENST00000460472.6:c.74758G>T (TTN) ENSP00000434586.1:p.Glu24920Ter
ENST00000591111.5:c.97030G>T (TTN) ENSP00000465570.1:p.Glu32344Ter
ENST00000615779.4:c.97030G>T (TTN) ENSP00000483597.1:p.Glu32344Ter
XM_011511729.1:c.101050G>T (TTN) XP_011510031.1:p.Glu33684Ter
XM_011511730.1:c.74944G>T (TTN) XP_011510032.1:p.Glu24982Ter
XM_011511731.1:c.74803G>T (TTN) XP_011510033.1:p.Glu24935Ter
XM_017004819.1:c.100846G>T (TTN) XP_016860308.1:p.Glu33616Ter
XM_017004820.1:c.96244G>T (TTN) XP_016860309.1:p.Glu32082Ter
XM_017004821.1:c.96241G>T (TTN) XP_016860310.1:p.Glu32081Ter
XM_017004822.1:c.93283G>T (TTN) XP_016860311.1:p.Glu31095Ter
XM_017004823.1:c.74899G>T (TTN) XP_016860312.1:p.Glu24967Ter
XM_024453094.1:c.96394G>T (TTN) XP_024308862.1:p.Glu32132Ter
XM_024453095.1:c.96391G>T (TTN) XP_024308863.1:p.Glu32131Ter
XM_024453096.1:c.95824G>T (TTN) XP_024308864.1:p.Glu31942Ter
XM_024453097.1:c.93166G>T (TTN) XP_024308865.1:p.Glu31056Ter
XM_024453098.1:c.93085G>T (TTN) XP_024308866.1:p.Glu31029Ter
XM_024453099.1:c.74848G>T (TTN) XP_024308867.1:p.Glu24950Ter
XM_024453100.1:c.64702G>T (TTN) XP_024308868.1:p.Glu21568Ter