Canonical Allele Identifier: CA349412169
Community Standard Title: NM_001267550.2(TTN):c.104242G>T (p.Glu34748Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532373C>A , CM000664.2:g.178532373C>A GRCh38
NC_000002.11:g.179397100C>A , CM000664.1:g.179397100C>A GRCh37
NC_000002.10:g.179105346C>A NCBI36
NG_011618.3:g.303430G>T , LRG_391:g.303430G>T
NG_051363.1:g.14547C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104242G>T (TTN) MANE Select NP_001254479.2:p.Glu34748Ter
ENST00000589042.5:c.104242G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34748Ter
NM_001256850.1:c.99319G>T (TTN) NP_001243779.1:p.Glu33107Ter
NM_003319.4:c.77047G>T (TTN) NP_003310.4:p.Glu25683Ter
NM_133378.4:c.96538G>T (TTN) NP_596869.4:p.Glu32180Ter
NM_133432.3:c.77422G>T (TTN) NP_597676.3:p.Glu25808Ter
NM_133437.4:c.77623G>T (TTN) NP_597681.4:p.Glu25875Ter
NR_038271.1:n.446+8737C>A (TTN-AS1)
NR_038272.1:n.220-3359C>A (TTN-AS1)
ENST00000342175.10:c.77623G>T (TTN) ENSP00000340554.6:p.Glu25875Ter
ENST00000342175.11:c.77623G>T (TTN) ENSP00000340554.6:p.Glu25875Ter
ENST00000342992.10:c.96538G>T (TTN) ENSP00000343764.6:p.Glu32180Ter
ENST00000342992.11:c.96538G>T (TTN) ENSP00000343764.6:p.Glu32180Ter
ENST00000359218.10:c.77422G>T (TTN) ENSP00000352154.5:p.Glu25808Ter
ENST00000359218.9:c.77422G>T (TTN) ENSP00000352154.5:p.Glu25808Ter
ENST00000460472.6:c.77047G>T (TTN) ENSP00000434586.1:p.Glu25683Ter
ENST00000591111.5:c.99319G>T (TTN) ENSP00000465570.1:p.Glu33107Ter
ENST00000615779.4:c.99319G>T (TTN) ENSP00000483597.1:p.Glu33107Ter
XM_011511729.1:c.103339G>T (TTN) XP_011510031.1:p.Glu34447Ter
XM_011511730.1:c.77233G>T (TTN) XP_011510032.1:p.Glu25745Ter
XM_011511731.1:c.77092G>T (TTN) XP_011510033.1:p.Glu25698Ter
XM_017004819.1:c.103135G>T (TTN) XP_016860308.1:p.Glu34379Ter
XM_017004820.1:c.98533G>T (TTN) XP_016860309.1:p.Glu32845Ter
XM_017004821.1:c.98530G>T (TTN) XP_016860310.1:p.Glu32844Ter
XM_017004822.1:c.95572G>T (TTN) XP_016860311.1:p.Glu31858Ter
XM_017004823.1:c.77188G>T (TTN) XP_016860312.1:p.Glu25730Ter
XM_024453094.1:c.98683G>T (TTN) XP_024308862.1:p.Glu32895Ter
XM_024453095.1:c.98680G>T (TTN) XP_024308863.1:p.Glu32894Ter
XM_024453096.1:c.98113G>T (TTN) XP_024308864.1:p.Glu32705Ter
XM_024453097.1:c.95455G>T (TTN) XP_024308865.1:p.Glu31819Ter
XM_024453098.1:c.95374G>T (TTN) XP_024308866.1:p.Glu31792Ter
XM_024453099.1:c.77137G>T (TTN) XP_024308867.1:p.Glu25713Ter
XM_024453100.1:c.66991G>T (TTN) XP_024308868.1:p.Glu22331Ter