Canonical Allele Identifier: CA349612063
Community Standard Title: NM_001267550.2(TTN):c.48110T>A (p.Leu16037Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178616779A>T , CM000664.2:g.178616779A>T GRCh38
NC_000002.11:g.179481506A>T , CM000664.1:g.179481506A>T GRCh37
NC_000002.10:g.179189751A>T NCBI36
NG_011618.3:g.219024T>A , LRG_391:g.219024T>A
NG_051363.1:g.98953A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.48110T>A (TTN) MANE Select NP_001254479.2:p.Leu16037Ter
ENST00000589042.5:c.48110T>A (TTN) MANE Select ENSP00000467141.1:p.Leu16037Ter
NM_001256850.1:c.43187T>A (TTN) NP_001243779.1:p.Leu14396Ter
NM_003319.4:c.20915T>A (TTN) NP_003310.4:p.Leu6972Ter
NM_133378.4:c.40406T>A (TTN) NP_596869.4:p.Leu13469Ter
NM_133432.3:c.21290T>A (TTN) NP_597676.3:p.Leu7097Ter
NM_133437.4:c.21491T>A (TTN) NP_597681.4:p.Leu7164Ter
NR_038271.1:n.1604+1405A>T (TTN-AS1)
ENST00000342175.10:c.21491T>A (TTN) ENSP00000340554.6:p.Leu7164Ter
ENST00000342175.11:c.21491T>A (TTN) ENSP00000340554.6:p.Leu7164Ter
ENST00000342992.10:c.40406T>A (TTN) ENSP00000343764.6:p.Leu13469Ter
ENST00000342992.11:c.40406T>A (TTN) ENSP00000343764.6:p.Leu13469Ter
ENST00000359218.10:c.21290T>A (TTN) ENSP00000352154.5:p.Leu7097Ter
ENST00000359218.9:c.21290T>A (TTN) ENSP00000352154.5:p.Leu7097Ter
ENST00000460472.6:c.20915T>A (TTN) ENSP00000434586.1:p.Leu6972Ter
ENST00000591111.5:c.43187T>A (TTN) ENSP00000465570.1:p.Leu14396Ter
ENST00000615779.4:c.43187T>A (TTN) ENSP00000483597.1:p.Leu14396Ter
XM_011511729.1:c.47207T>A (TTN) XP_011510031.1:p.Leu15736Ter
XM_011511730.1:c.21101T>A (TTN) XP_011510032.1:p.Leu7034Ter
XM_011511731.1:c.20960T>A (TTN) XP_011510033.1:p.Leu6987Ter
XM_017004819.1:c.47003T>A (TTN) XP_016860308.1:p.Leu15668Ter
XM_017004820.1:c.42401T>A (TTN) XP_016860309.1:p.Leu14134Ter
XM_017004821.1:c.42398T>A (TTN) XP_016860310.1:p.Leu14133Ter
XM_017004822.1:c.39440T>A (TTN) XP_016860311.1:p.Leu13147Ter
XM_017004823.1:c.21056T>A (TTN) XP_016860312.1:p.Leu7019Ter
XM_024453094.1:c.42551T>A (TTN) XP_024308862.1:p.Leu14184Ter
XM_024453095.1:c.42548T>A (TTN) XP_024308863.1:p.Leu14183Ter
XM_024453096.1:c.41981T>A (TTN) XP_024308864.1:p.Leu13994Ter
XM_024453097.1:c.39323T>A (TTN) XP_024308865.1:p.Leu13108Ter
XM_024453098.1:c.39242T>A (TTN) XP_024308866.1:p.Leu13081Ter
XM_024453099.1:c.21005T>A (TTN) XP_024308867.1:p.Leu7002Ter
XM_024453100.1:c.10859T>A (TTN) XP_024308868.1:p.Leu3620Ter