Canonical Allele Identifier: CA349434877

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540070A>T , CM000664.2:g.178540070A>T GRCh38
NC_000002.11:g.179404797A>T , CM000664.1:g.179404797A>T GRCh37
NC_000002.10:g.179113043A>T NCBI36
NG_011618.3:g.295733T>A , LRG_391:g.295733T>A
NG_051363.1:g.22244A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.90392T>A (TTN) ENSP00000343764.6:p.Leu30131His
ENST00000342175.11:c.71477T>A (TTN) ENSP00000340554.6:p.Leu23826His
ENST00000359218.10:c.71276T>A (TTN) ENSP00000352154.5:p.Leu23759His
ENST00000342175.10:c.71477T>A (TTN) ENSP00000340554.6:p.Leu23826His
ENST00000342992.10:c.90392T>A (TTN) ENSP00000343764.6:p.Leu30131His
ENST00000359218.9:c.71276T>A (TTN) ENSP00000352154.5:p.Leu23759His
ENST00000460472.6:c.70901T>A (TTN) ENSP00000434586.1:p.Leu23634His
ENST00000589042.5:c.98096T>A (TTN) MANE Select ENSP00000467141.1:p.Leu32699His
ENST00000591111.5:c.93173T>A (TTN) ENSP00000465570.1:p.Leu31058His
ENST00000615779.4:c.93173T>A (TTN) ENSP00000483597.1:p.Leu31058His
NM_001256850.1:c.93173T>A (TTN) NP_001243779.1:p.Leu31058His
NM_001267550.2:c.98096T>A (TTN) MANE Select NP_001254479.2:p.Leu32699His
NM_003319.4:c.70901T>A (TTN) NP_003310.4:p.Leu23634His
NM_133378.4:c.90392T>A (TTN) NP_596869.4:p.Leu30131His
NM_133432.3:c.71276T>A (TTN) NP_597676.3:p.Leu23759His
NM_133437.4:c.71477T>A (TTN) NP_597681.4:p.Leu23826His
NR_038271.1:n.446+16434A>T (TTN-AS1)
NR_038272.1:n.1841-37A>T (TTN-AS1)
XM_011511729.1:c.97193T>A (TTN) XP_011510031.1:p.Leu32398His
XM_011511730.1:c.71087T>A (TTN) XP_011510032.1:p.Leu23696His
XM_011511731.1:c.70946T>A (TTN) XP_011510033.1:p.Leu23649His
XM_017004819.1:c.96989T>A (TTN) XP_016860308.1:p.Leu32330His
XM_017004820.1:c.92387T>A (TTN) XP_016860309.1:p.Leu30796His
XM_017004821.1:c.92384T>A (TTN) XP_016860310.1:p.Leu30795His
XM_017004822.1:c.89426T>A (TTN) XP_016860311.1:p.Leu29809His
XM_017004823.1:c.71042T>A (TTN) XP_016860312.1:p.Leu23681His
XM_024453094.1:c.92537T>A (TTN) XP_024308862.1:p.Leu30846His
XM_024453095.1:c.92534T>A (TTN) XP_024308863.1:p.Leu30845His
XM_024453096.1:c.91967T>A (TTN) XP_024308864.1:p.Leu30656His
XM_024453097.1:c.89309T>A (TTN) XP_024308865.1:p.Leu29770His
XM_024453098.1:c.89228T>A (TTN) XP_024308866.1:p.Leu29743His
XM_024453099.1:c.70991T>A (TTN) XP_024308867.1:p.Leu23664His
XM_024453100.1:c.60845T>A (TTN) XP_024308868.1:p.Leu20282His