Canonical Allele Identifier: CA349412112
Community Standard Title: NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532346G>A , CM000664.2:g.178532346G>A GRCh38
NC_000002.11:g.179397073G>A , CM000664.1:g.179397073G>A GRCh37
NC_000002.10:g.179105319G>A NCBI36
NG_011618.3:g.303457C>T , LRG_391:g.303457C>T
NG_051363.1:g.14520G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104269C>T (TTN) MANE Select NP_001254479.2:p.Gln34757Ter
ENST00000589042.5:c.104269C>T (TTN) MANE Select ENSP00000467141.1:p.Gln34757Ter
NM_001256850.1:c.99346C>T (TTN) NP_001243779.1:p.Gln33116Ter
NM_003319.4:c.77074C>T (TTN) NP_003310.4:p.Gln25692Ter
NM_133378.4:c.96565C>T (TTN) NP_596869.4:p.Gln32189Ter
NM_133432.3:c.77449C>T (TTN) NP_597676.3:p.Gln25817Ter
NM_133437.4:c.77650C>T (TTN) NP_597681.4:p.Gln25884Ter
NR_038271.1:n.446+8710G>A (TTN-AS1)
NR_038272.1:n.220-3386G>A (TTN-AS1)
ENST00000342175.10:c.77650C>T (TTN) ENSP00000340554.6:p.Gln25884Ter
ENST00000342175.11:c.77650C>T (TTN) ENSP00000340554.6:p.Gln25884Ter
ENST00000342992.10:c.96565C>T (TTN) ENSP00000343764.6:p.Gln32189Ter
ENST00000342992.11:c.96565C>T (TTN) ENSP00000343764.6:p.Gln32189Ter
ENST00000359218.10:c.77449C>T (TTN) ENSP00000352154.5:p.Gln25817Ter
ENST00000359218.9:c.77449C>T (TTN) ENSP00000352154.5:p.Gln25817Ter
ENST00000460472.6:c.77074C>T (TTN) ENSP00000434586.1:p.Gln25692Ter
ENST00000591111.5:c.99346C>T (TTN) ENSP00000465570.1:p.Gln33116Ter
ENST00000615779.4:c.99346C>T (TTN) ENSP00000483597.1:p.Gln33116Ter
XM_011511729.1:c.103366C>T (TTN) XP_011510031.1:p.Gln34456Ter
XM_011511730.1:c.77260C>T (TTN) XP_011510032.1:p.Gln25754Ter
XM_011511731.1:c.77119C>T (TTN) XP_011510033.1:p.Gln25707Ter
XM_017004819.1:c.103162C>T (TTN) XP_016860308.1:p.Gln34388Ter
XM_017004820.1:c.98560C>T (TTN) XP_016860309.1:p.Gln32854Ter
XM_017004821.1:c.98557C>T (TTN) XP_016860310.1:p.Gln32853Ter
XM_017004822.1:c.95599C>T (TTN) XP_016860311.1:p.Gln31867Ter
XM_017004823.1:c.77215C>T (TTN) XP_016860312.1:p.Gln25739Ter
XM_024453094.1:c.98710C>T (TTN) XP_024308862.1:p.Gln32904Ter
XM_024453095.1:c.98707C>T (TTN) XP_024308863.1:p.Gln32903Ter
XM_024453096.1:c.98140C>T (TTN) XP_024308864.1:p.Gln32714Ter
XM_024453097.1:c.95482C>T (TTN) XP_024308865.1:p.Gln31828Ter
XM_024453098.1:c.95401C>T (TTN) XP_024308866.1:p.Gln31801Ter
XM_024453099.1:c.77164C>T (TTN) XP_024308867.1:p.Gln25722Ter
XM_024453100.1:c.67018C>T (TTN) XP_024308868.1:p.Gln22340Ter