Canonical Allele Identifier: CA349424833
Community Standard Title: NM_001267550.2(TTN):c.100723C>T (p.Gln33575Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536024G>A , CM000664.2:g.178536024G>A GRCh38
NC_000002.11:g.179400751G>A , CM000664.1:g.179400751G>A GRCh37
NC_000002.10:g.179108997G>A NCBI36
NG_011618.3:g.299779C>T , LRG_391:g.299779C>T
NG_051363.1:g.18198G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.100723C>T (TTN) MANE Select NP_001254479.2:p.Gln33575Ter
ENST00000589042.5:c.100723C>T (TTN) MANE Select ENSP00000467141.1:p.Gln33575Ter
NM_001256850.1:c.95800C>T (TTN) NP_001243779.1:p.Gln31934Ter
NM_003319.4:c.73528C>T (TTN) NP_003310.4:p.Gln24510Ter
NM_133378.4:c.93019C>T (TTN) NP_596869.4:p.Gln31007Ter
NM_133432.3:c.73903C>T (TTN) NP_597676.3:p.Gln24635Ter
NM_133437.4:c.74104C>T (TTN) NP_597681.4:p.Gln24702Ter
NR_038271.1:n.446+12388G>A (TTN-AS1)
NR_038272.1:n.316+196G>A (TTN-AS1)
ENST00000342175.10:c.74104C>T (TTN) ENSP00000340554.6:p.Gln24702Ter
ENST00000342175.11:c.74104C>T (TTN) ENSP00000340554.6:p.Gln24702Ter
ENST00000342992.10:c.93019C>T (TTN) ENSP00000343764.6:p.Gln31007Ter
ENST00000342992.11:c.93019C>T (TTN) ENSP00000343764.6:p.Gln31007Ter
ENST00000359218.10:c.73903C>T (TTN) ENSP00000352154.5:p.Gln24635Ter
ENST00000359218.9:c.73903C>T (TTN) ENSP00000352154.5:p.Gln24635Ter
ENST00000460472.6:c.73528C>T (TTN) ENSP00000434586.1:p.Gln24510Ter
ENST00000591111.5:c.95800C>T (TTN) ENSP00000465570.1:p.Gln31934Ter
ENST00000615779.4:c.95800C>T (TTN) ENSP00000483597.1:p.Gln31934Ter
XM_011511729.1:c.99820C>T (TTN) XP_011510031.1:p.Gln33274Ter
XM_011511730.1:c.73714C>T (TTN) XP_011510032.1:p.Gln24572Ter
XM_011511731.1:c.73573C>T (TTN) XP_011510033.1:p.Gln24525Ter
XM_017004819.1:c.99616C>T (TTN) XP_016860308.1:p.Gln33206Ter
XM_017004820.1:c.95014C>T (TTN) XP_016860309.1:p.Gln31672Ter
XM_017004821.1:c.95011C>T (TTN) XP_016860310.1:p.Gln31671Ter
XM_017004822.1:c.92053C>T (TTN) XP_016860311.1:p.Gln30685Ter
XM_017004823.1:c.73669C>T (TTN) XP_016860312.1:p.Gln24557Ter
XM_024453094.1:c.95164C>T (TTN) XP_024308862.1:p.Gln31722Ter
XM_024453095.1:c.95161C>T (TTN) XP_024308863.1:p.Gln31721Ter
XM_024453096.1:c.94594C>T (TTN) XP_024308864.1:p.Gln31532Ter
XM_024453097.1:c.91936C>T (TTN) XP_024308865.1:p.Gln30646Ter
XM_024453098.1:c.91855C>T (TTN) XP_024308866.1:p.Gln30619Ter
XM_024453099.1:c.73618C>T (TTN) XP_024308867.1:p.Gln24540Ter
XM_024453100.1:c.63472C>T (TTN) XP_024308868.1:p.Gln21158Ter