Canonical Allele Identifier: CA349466310

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546221T>A , CM000664.2:g.178546221T>A GRCh38
NC_000002.11:g.179410948T>A , CM000664.1:g.179410948T>A GRCh37
NC_000002.10:g.179119194T>A NCBI36
NG_011618.3:g.289582A>T , LRG_391:g.289582A>T
NG_051363.1:g.28395T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87406A>T (TTN) ENSP00000343764.6:p.Lys29136Ter
ENST00000342175.11:c.68491A>T (TTN) ENSP00000340554.6:p.Lys22831Ter
ENST00000359218.10:c.68290A>T (TTN) ENSP00000352154.5:p.Lys22764Ter
ENST00000342175.10:c.68491A>T (TTN) ENSP00000340554.6:p.Lys22831Ter
ENST00000342992.10:c.87406A>T (TTN) ENSP00000343764.6:p.Lys29136Ter
ENST00000359218.9:c.68290A>T (TTN) ENSP00000352154.5:p.Lys22764Ter
ENST00000460472.6:c.67915A>T (TTN) ENSP00000434586.1:p.Lys22639Ter
ENST00000589042.5:c.95110A>T (TTN) MANE Select ENSP00000467141.1:p.Lys31704Ter
ENST00000591111.5:c.90187A>T (TTN) ENSP00000465570.1:p.Lys30063Ter
ENST00000615779.4:c.90187A>T (TTN) ENSP00000483597.1:p.Lys30063Ter
NM_001256850.1:c.90187A>T (TTN) NP_001243779.1:p.Lys30063Ter
NM_001267550.2:c.95110A>T (TTN) MANE Select NP_001254479.2:p.Lys31704Ter
NM_003319.4:c.67915A>T (TTN) NP_003310.4:p.Lys22639Ter
NM_133378.4:c.87406A>T (TTN) NP_596869.4:p.Lys29136Ter
NM_133432.3:c.68290A>T (TTN) NP_597676.3:p.Lys22764Ter
NM_133437.4:c.68491A>T (TTN) NP_597681.4:p.Lys22831Ter
NR_038271.1:n.446+22585T>A (TTN-AS1)
NR_038272.1:n.2043+3860T>A (TTN-AS1)
XM_011511729.1:c.94207A>T (TTN) XP_011510031.1:p.Lys31403Ter
XM_011511730.1:c.68101A>T (TTN) XP_011510032.1:p.Lys22701Ter
XM_011511731.1:c.67960A>T (TTN) XP_011510033.1:p.Lys22654Ter
XM_017004819.1:c.94003A>T (TTN) XP_016860308.1:p.Lys31335Ter
XM_017004820.1:c.89401A>T (TTN) XP_016860309.1:p.Lys29801Ter
XM_017004821.1:c.89398A>T (TTN) XP_016860310.1:p.Lys29800Ter
XM_017004822.1:c.86440A>T (TTN) XP_016860311.1:p.Lys28814Ter
XM_017004823.1:c.68056A>T (TTN) XP_016860312.1:p.Lys22686Ter
XM_024453094.1:c.89551A>T (TTN) XP_024308862.1:p.Lys29851Ter
XM_024453095.1:c.89548A>T (TTN) XP_024308863.1:p.Lys29850Ter
XM_024453096.1:c.88981A>T (TTN) XP_024308864.1:p.Lys29661Ter
XM_024453097.1:c.86323A>T (TTN) XP_024308865.1:p.Lys28775Ter
XM_024453098.1:c.86242A>T (TTN) XP_024308866.1:p.Lys28748Ter
XM_024453099.1:c.68005A>T (TTN) XP_024308867.1:p.Lys22669Ter
XM_024453100.1:c.57859A>T (TTN) XP_024308868.1:p.Lys19287Ter