Canonical Allele Identifier: CA349579311
Community Standard Title: NM_001267550.2(TTN):c.51913A>T (p.Lys17305Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609397T>A , CM000664.2:g.178609397T>A GRCh38
NC_000002.11:g.179474124T>A , CM000664.1:g.179474124T>A GRCh37
NC_000002.10:g.179182369T>A NCBI36
NG_011618.3:g.226406A>T , LRG_391:g.226406A>T
NG_051363.1:g.91571T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.51913A>T (TTN) MANE Select NP_001254479.2:p.Lys17305Ter
ENST00000589042.5:c.51913A>T (TTN) MANE Select ENSP00000467141.1:p.Lys17305Ter
NM_001256850.1:c.46990A>T (TTN) NP_001243779.1:p.Lys15664Ter
NM_003319.4:c.24718A>T (TTN) NP_003310.4:p.Lys8240Ter
NM_133378.4:c.44209A>T (TTN) NP_596869.4:p.Lys14737Ter
NM_133432.3:c.25093A>T (TTN) NP_597676.3:p.Lys8365Ter
NM_133437.4:c.25294A>T (TTN) NP_597681.4:p.Lys8432Ter
NR_038271.1:n.782+1131T>A (TTN-AS1)
ENST00000342175.10:c.25294A>T (TTN) ENSP00000340554.6:p.Lys8432Ter
ENST00000342175.11:c.25294A>T (TTN) ENSP00000340554.6:p.Lys8432Ter
ENST00000342992.10:c.44209A>T (TTN) ENSP00000343764.6:p.Lys14737Ter
ENST00000342992.11:c.44209A>T (TTN) ENSP00000343764.6:p.Lys14737Ter
ENST00000359218.10:c.25093A>T (TTN) ENSP00000352154.5:p.Lys8365Ter
ENST00000359218.9:c.25093A>T (TTN) ENSP00000352154.5:p.Lys8365Ter
ENST00000460472.6:c.24718A>T (TTN) ENSP00000434586.1:p.Lys8240Ter
ENST00000591111.5:c.46990A>T (TTN) ENSP00000465570.1:p.Lys15664Ter
ENST00000615779.4:c.46990A>T (TTN) ENSP00000483597.1:p.Lys15664Ter
XM_011511729.1:c.51010A>T (TTN) XP_011510031.1:p.Lys17004Ter
XM_011511730.1:c.24904A>T (TTN) XP_011510032.1:p.Lys8302Ter
XM_011511731.1:c.24763A>T (TTN) XP_011510033.1:p.Lys8255Ter
XM_017004819.1:c.50806A>T (TTN) XP_016860308.1:p.Lys16936Ter
XM_017004820.1:c.46204A>T (TTN) XP_016860309.1:p.Lys15402Ter
XM_017004821.1:c.46201A>T (TTN) XP_016860310.1:p.Lys15401Ter
XM_017004822.1:c.43243A>T (TTN) XP_016860311.1:p.Lys14415Ter
XM_017004823.1:c.24859A>T (TTN) XP_016860312.1:p.Lys8287Ter
XM_024453094.1:c.46354A>T (TTN) XP_024308862.1:p.Lys15452Ter
XM_024453095.1:c.46351A>T (TTN) XP_024308863.1:p.Lys15451Ter
XM_024453096.1:c.45784A>T (TTN) XP_024308864.1:p.Lys15262Ter
XM_024453097.1:c.43126A>T (TTN) XP_024308865.1:p.Lys14376Ter
XM_024453098.1:c.43045A>T (TTN) XP_024308866.1:p.Lys14349Ter
XM_024453099.1:c.24808A>T (TTN) XP_024308867.1:p.Lys8270Ter
XM_024453100.1:c.14662A>T (TTN) XP_024308868.1:p.Lys4888Ter