Canonical Allele Identifier: CA349414168
Community Standard Title: NM_001267550.2(TTN):c.103489C>T (p.Gln34497Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533126G>A , CM000664.2:g.178533126G>A GRCh38
NC_000002.11:g.179397853G>A , CM000664.1:g.179397853G>A GRCh37
NC_000002.10:g.179106099G>A NCBI36
NG_011618.3:g.302677C>T , LRG_391:g.302677C>T
NG_051363.1:g.15300G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103489C>T (TTN) MANE Select NP_001254479.2:p.Gln34497Ter
ENST00000589042.5:c.103489C>T (TTN) MANE Select ENSP00000467141.1:p.Gln34497Ter
NM_001256850.1:c.98566C>T (TTN) NP_001243779.1:p.Gln32856Ter
NM_003319.4:c.76294C>T (TTN) NP_003310.4:p.Gln25432Ter
NM_133378.4:c.95785C>T (TTN) NP_596869.4:p.Gln31929Ter
NM_133432.3:c.76669C>T (TTN) NP_597676.3:p.Gln25557Ter
NM_133437.4:c.76870C>T (TTN) NP_597681.4:p.Gln25624Ter
NR_038271.1:n.446+9490G>A (TTN-AS1)
NR_038272.1:n.220-2606G>A (TTN-AS1)
ENST00000342175.10:c.76870C>T (TTN) ENSP00000340554.6:p.Gln25624Ter
ENST00000342175.11:c.76870C>T (TTN) ENSP00000340554.6:p.Gln25624Ter
ENST00000342992.10:c.95785C>T (TTN) ENSP00000343764.6:p.Gln31929Ter
ENST00000342992.11:c.95785C>T (TTN) ENSP00000343764.6:p.Gln31929Ter
ENST00000359218.10:c.76669C>T (TTN) ENSP00000352154.5:p.Gln25557Ter
ENST00000359218.9:c.76669C>T (TTN) ENSP00000352154.5:p.Gln25557Ter
ENST00000460472.6:c.76294C>T (TTN) ENSP00000434586.1:p.Gln25432Ter
ENST00000591111.5:c.98566C>T (TTN) ENSP00000465570.1:p.Gln32856Ter
ENST00000615779.4:c.98566C>T (TTN) ENSP00000483597.1:p.Gln32856Ter
XM_011511729.1:c.102586C>T (TTN) XP_011510031.1:p.Gln34196Ter
XM_011511730.1:c.76480C>T (TTN) XP_011510032.1:p.Gln25494Ter
XM_011511731.1:c.76339C>T (TTN) XP_011510033.1:p.Gln25447Ter
XM_017004819.1:c.102382C>T (TTN) XP_016860308.1:p.Gln34128Ter
XM_017004820.1:c.97780C>T (TTN) XP_016860309.1:p.Gln32594Ter
XM_017004821.1:c.97777C>T (TTN) XP_016860310.1:p.Gln32593Ter
XM_017004822.1:c.94819C>T (TTN) XP_016860311.1:p.Gln31607Ter
XM_017004823.1:c.76435C>T (TTN) XP_016860312.1:p.Gln25479Ter
XM_024453094.1:c.97930C>T (TTN) XP_024308862.1:p.Gln32644Ter
XM_024453095.1:c.97927C>T (TTN) XP_024308863.1:p.Gln32643Ter
XM_024453096.1:c.97360C>T (TTN) XP_024308864.1:p.Gln32454Ter
XM_024453097.1:c.94702C>T (TTN) XP_024308865.1:p.Gln31568Ter
XM_024453098.1:c.94621C>T (TTN) XP_024308866.1:p.Gln31541Ter
XM_024453099.1:c.76384C>T (TTN) XP_024308867.1:p.Gln25462Ter
XM_024453100.1:c.66238C>T (TTN) XP_024308868.1:p.Gln22080Ter