Canonical Allele Identifier: CA349413473
Community Standard Title: NM_001267550.2(TTN):c.103804C>T (p.Gln34602Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532811G>A , CM000664.2:g.178532811G>A GRCh38
NC_000002.11:g.179397538G>A , CM000664.1:g.179397538G>A GRCh37
NC_000002.10:g.179105784G>A NCBI36
NG_011618.3:g.302992C>T , LRG_391:g.302992C>T
NG_051363.1:g.14985G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103804C>T (TTN) MANE Select NP_001254479.2:p.Gln34602Ter
ENST00000589042.5:c.103804C>T (TTN) MANE Select ENSP00000467141.1:p.Gln34602Ter
NM_001256850.1:c.98881C>T (TTN) NP_001243779.1:p.Gln32961Ter
NM_003319.4:c.76609C>T (TTN) NP_003310.4:p.Gln25537Ter
NM_133378.4:c.96100C>T (TTN) NP_596869.4:p.Gln32034Ter
NM_133432.3:c.76984C>T (TTN) NP_597676.3:p.Gln25662Ter
NM_133437.4:c.77185C>T (TTN) NP_597681.4:p.Gln25729Ter
NR_038271.1:n.446+9175G>A (TTN-AS1)
NR_038272.1:n.220-2921G>A (TTN-AS1)
ENST00000342175.10:c.77185C>T (TTN) ENSP00000340554.6:p.Gln25729Ter
ENST00000342175.11:c.77185C>T (TTN) ENSP00000340554.6:p.Gln25729Ter
ENST00000342992.10:c.96100C>T (TTN) ENSP00000343764.6:p.Gln32034Ter
ENST00000342992.11:c.96100C>T (TTN) ENSP00000343764.6:p.Gln32034Ter
ENST00000359218.10:c.76984C>T (TTN) ENSP00000352154.5:p.Gln25662Ter
ENST00000359218.9:c.76984C>T (TTN) ENSP00000352154.5:p.Gln25662Ter
ENST00000460472.6:c.76609C>T (TTN) ENSP00000434586.1:p.Gln25537Ter
ENST00000591111.5:c.98881C>T (TTN) ENSP00000465570.1:p.Gln32961Ter
ENST00000615779.4:c.98881C>T (TTN) ENSP00000483597.1:p.Gln32961Ter
XM_011511729.1:c.102901C>T (TTN) XP_011510031.1:p.Gln34301Ter
XM_011511730.1:c.76795C>T (TTN) XP_011510032.1:p.Gln25599Ter
XM_011511731.1:c.76654C>T (TTN) XP_011510033.1:p.Gln25552Ter
XM_017004819.1:c.102697C>T (TTN) XP_016860308.1:p.Gln34233Ter
XM_017004820.1:c.98095C>T (TTN) XP_016860309.1:p.Gln32699Ter
XM_017004821.1:c.98092C>T (TTN) XP_016860310.1:p.Gln32698Ter
XM_017004822.1:c.95134C>T (TTN) XP_016860311.1:p.Gln31712Ter
XM_017004823.1:c.76750C>T (TTN) XP_016860312.1:p.Gln25584Ter
XM_024453094.1:c.98245C>T (TTN) XP_024308862.1:p.Gln32749Ter
XM_024453095.1:c.98242C>T (TTN) XP_024308863.1:p.Gln32748Ter
XM_024453096.1:c.97675C>T (TTN) XP_024308864.1:p.Gln32559Ter
XM_024453097.1:c.95017C>T (TTN) XP_024308865.1:p.Gln31673Ter
XM_024453098.1:c.94936C>T (TTN) XP_024308866.1:p.Gln31646Ter
XM_024453099.1:c.76699C>T (TTN) XP_024308867.1:p.Gln25567Ter
XM_024453100.1:c.66553C>T (TTN) XP_024308868.1:p.Gln22185Ter