Canonical Allele Identifier: CA349626130
Community Standard Title: NM_001267550.2(TTN):c.46459C>T (p.Gln15487Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178619858G>A , CM000664.2:g.178619858G>A GRCh38
NC_000002.11:g.179484585G>A , CM000664.1:g.179484585G>A GRCh37
NC_000002.10:g.179192830G>A NCBI36
NG_011618.3:g.215945C>T , LRG_391:g.215945C>T
NG_051363.1:g.102032G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46459C>T (TTN) MANE Select NP_001254479.2:p.Gln15487Ter
ENST00000589042.5:c.46459C>T (TTN) MANE Select ENSP00000467141.1:p.Gln15487Ter
NM_001256850.1:c.41536C>T (TTN) NP_001243779.1:p.Gln13846Ter
NM_003319.4:c.19264C>T (TTN) NP_003310.4:p.Gln6422Ter
NM_133378.4:c.38755C>T (TTN) NP_596869.4:p.Gln12919Ter
NM_133432.3:c.19639C>T (TTN) NP_597676.3:p.Gln6547Ter
NM_133437.4:c.19840C>T (TTN) NP_597681.4:p.Gln6614Ter
NR_038271.1:n.1710G>A (TTN-AS1)
ENST00000342175.10:c.19840C>T (TTN) ENSP00000340554.6:p.Gln6614Ter
ENST00000342175.11:c.19840C>T (TTN) ENSP00000340554.6:p.Gln6614Ter
ENST00000342992.10:c.38755C>T (TTN) ENSP00000343764.6:p.Gln12919Ter
ENST00000342992.11:c.38755C>T (TTN) ENSP00000343764.6:p.Gln12919Ter
ENST00000359218.10:c.19639C>T (TTN) ENSP00000352154.5:p.Gln6547Ter
ENST00000359218.9:c.19639C>T (TTN) ENSP00000352154.5:p.Gln6547Ter
ENST00000460472.6:c.19264C>T (TTN) ENSP00000434586.1:p.Gln6422Ter
ENST00000591111.5:c.41536C>T (TTN) ENSP00000465570.1:p.Gln13846Ter
ENST00000615779.4:c.41536C>T (TTN) ENSP00000483597.1:p.Gln13846Ter
XM_011511729.1:c.45556C>T (TTN) XP_011510031.1:p.Gln15186Ter
XM_011511730.1:c.19450C>T (TTN) XP_011510032.1:p.Gln6484Ter
XM_011511731.1:c.19309C>T (TTN) XP_011510033.1:p.Gln6437Ter
XM_017004819.1:c.45352C>T (TTN) XP_016860308.1:p.Gln15118Ter
XM_017004820.1:c.40750C>T (TTN) XP_016860309.1:p.Gln13584Ter
XM_017004821.1:c.40747C>T (TTN) XP_016860310.1:p.Gln13583Ter
XM_017004822.1:c.37789C>T (TTN) XP_016860311.1:p.Gln12597Ter
XM_017004823.1:c.19405C>T (TTN) XP_016860312.1:p.Gln6469Ter
XM_024453094.1:c.40900C>T (TTN) XP_024308862.1:p.Gln13634Ter
XM_024453095.1:c.40897C>T (TTN) XP_024308863.1:p.Gln13633Ter
XM_024453096.1:c.40330C>T (TTN) XP_024308864.1:p.Gln13444Ter
XM_024453097.1:c.37672C>T (TTN) XP_024308865.1:p.Gln12558Ter
XM_024453098.1:c.37591C>T (TTN) XP_024308866.1:p.Gln12531Ter
XM_024453099.1:c.19354C>T (TTN) XP_024308867.1:p.Gln6452Ter
XM_024453100.1:c.9208C>T (TTN) XP_024308868.1:p.Gln3070Ter