Canonical Allele Identifier: CA349414461
Community Standard Title: NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533261G>A , CM000664.2:g.178533261G>A GRCh38
NC_000002.11:g.179397988G>A , CM000664.1:g.179397988G>A GRCh37
NC_000002.10:g.179106234G>A NCBI36
NG_011618.3:g.302542C>T , LRG_391:g.302542C>T
NG_051363.1:g.15435G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103354C>T (TTN) MANE Select NP_001254479.2:p.Gln34452Ter
ENST00000589042.5:c.103354C>T (TTN) MANE Select ENSP00000467141.1:p.Gln34452Ter
NM_001256850.1:c.98431C>T (TTN) NP_001243779.1:p.Gln32811Ter
NM_003319.4:c.76159C>T (TTN) NP_003310.4:p.Gln25387Ter
NM_133378.4:c.95650C>T (TTN) NP_596869.4:p.Gln31884Ter
NM_133432.3:c.76534C>T (TTN) NP_597676.3:p.Gln25512Ter
NM_133437.4:c.76735C>T (TTN) NP_597681.4:p.Gln25579Ter
NR_038271.1:n.446+9625G>A (TTN-AS1)
NR_038272.1:n.220-2471G>A (TTN-AS1)
ENST00000342175.10:c.76735C>T (TTN) ENSP00000340554.6:p.Gln25579Ter
ENST00000342175.11:c.76735C>T (TTN) ENSP00000340554.6:p.Gln25579Ter
ENST00000342992.10:c.95650C>T (TTN) ENSP00000343764.6:p.Gln31884Ter
ENST00000342992.11:c.95650C>T (TTN) ENSP00000343764.6:p.Gln31884Ter
ENST00000359218.10:c.76534C>T (TTN) ENSP00000352154.5:p.Gln25512Ter
ENST00000359218.9:c.76534C>T (TTN) ENSP00000352154.5:p.Gln25512Ter
ENST00000460472.6:c.76159C>T (TTN) ENSP00000434586.1:p.Gln25387Ter
ENST00000591111.5:c.98431C>T (TTN) ENSP00000465570.1:p.Gln32811Ter
ENST00000615779.4:c.98431C>T (TTN) ENSP00000483597.1:p.Gln32811Ter
XM_011511729.1:c.102451C>T (TTN) XP_011510031.1:p.Gln34151Ter
XM_011511730.1:c.76345C>T (TTN) XP_011510032.1:p.Gln25449Ter
XM_011511731.1:c.76204C>T (TTN) XP_011510033.1:p.Gln25402Ter
XM_017004819.1:c.102247C>T (TTN) XP_016860308.1:p.Gln34083Ter
XM_017004820.1:c.97645C>T (TTN) XP_016860309.1:p.Gln32549Ter
XM_017004821.1:c.97642C>T (TTN) XP_016860310.1:p.Gln32548Ter
XM_017004822.1:c.94684C>T (TTN) XP_016860311.1:p.Gln31562Ter
XM_017004823.1:c.76300C>T (TTN) XP_016860312.1:p.Gln25434Ter
XM_024453094.1:c.97795C>T (TTN) XP_024308862.1:p.Gln32599Ter
XM_024453095.1:c.97792C>T (TTN) XP_024308863.1:p.Gln32598Ter
XM_024453096.1:c.97225C>T (TTN) XP_024308864.1:p.Gln32409Ter
XM_024453097.1:c.94567C>T (TTN) XP_024308865.1:p.Gln31523Ter
XM_024453098.1:c.94486C>T (TTN) XP_024308866.1:p.Gln31496Ter
XM_024453099.1:c.76249C>T (TTN) XP_024308867.1:p.Gln25417Ter
XM_024453100.1:c.66103C>T (TTN) XP_024308868.1:p.Gln22035Ter