Canonical Allele Identifier: CA349454395

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544104G>A , CM000664.2:g.178544104G>A GRCh38
NC_000002.11:g.179408831G>A , CM000664.1:g.179408831G>A GRCh37
NC_000002.10:g.179117077G>A NCBI36
NG_011618.3:g.291699C>T , LRG_391:g.291699C>T
NG_051363.1:g.26278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88336C>T (TTN) ENSP00000343764.6:p.Leu29446Phe
ENST00000342175.11:c.69421C>T (TTN) ENSP00000340554.6:p.Leu23141Phe
ENST00000359218.10:c.69220C>T (TTN) ENSP00000352154.5:p.Leu23074Phe
ENST00000342175.10:c.69421C>T (TTN) ENSP00000340554.6:p.Leu23141Phe
ENST00000342992.10:c.88336C>T (TTN) ENSP00000343764.6:p.Leu29446Phe
ENST00000359218.9:c.69220C>T (TTN) ENSP00000352154.5:p.Leu23074Phe
ENST00000460472.6:c.68845C>T (TTN) ENSP00000434586.1:p.Leu22949Phe
ENST00000589042.5:c.96040C>T (TTN) MANE Select ENSP00000467141.1:p.Leu32014Phe
ENST00000591111.5:c.91117C>T (TTN) ENSP00000465570.1:p.Leu30373Phe
ENST00000615779.4:c.91117C>T (TTN) ENSP00000483597.1:p.Leu30373Phe
NM_001256850.1:c.91117C>T (TTN) NP_001243779.1:p.Leu30373Phe
NM_001267550.2:c.96040C>T (TTN) MANE Select NP_001254479.2:p.Leu32014Phe
NM_003319.4:c.68845C>T (TTN) NP_003310.4:p.Leu22949Phe
NM_133378.4:c.88336C>T (TTN) NP_596869.4:p.Leu29446Phe
NM_133432.3:c.69220C>T (TTN) NP_597676.3:p.Leu23074Phe
NM_133437.4:c.69421C>T (TTN) NP_597681.4:p.Leu23141Phe
NR_038271.1:n.446+20468G>A (TTN-AS1)
NR_038272.1:n.2043+1743G>A (TTN-AS1)
XM_011511729.1:c.95137C>T (TTN) XP_011510031.1:p.Leu31713Phe
XM_011511730.1:c.69031C>T (TTN) XP_011510032.1:p.Leu23011Phe
XM_011511731.1:c.68890C>T (TTN) XP_011510033.1:p.Leu22964Phe
XM_017004819.1:c.94933C>T (TTN) XP_016860308.1:p.Leu31645Phe
XM_017004820.1:c.90331C>T (TTN) XP_016860309.1:p.Leu30111Phe
XM_017004821.1:c.90328C>T (TTN) XP_016860310.1:p.Leu30110Phe
XM_017004822.1:c.87370C>T (TTN) XP_016860311.1:p.Leu29124Phe
XM_017004823.1:c.68986C>T (TTN) XP_016860312.1:p.Leu22996Phe
XM_024453094.1:c.90481C>T (TTN) XP_024308862.1:p.Leu30161Phe
XM_024453095.1:c.90478C>T (TTN) XP_024308863.1:p.Leu30160Phe
XM_024453096.1:c.89911C>T (TTN) XP_024308864.1:p.Leu29971Phe
XM_024453097.1:c.87253C>T (TTN) XP_024308865.1:p.Leu29085Phe
XM_024453098.1:c.87172C>T (TTN) XP_024308866.1:p.Leu29058Phe
XM_024453099.1:c.68935C>T (TTN) XP_024308867.1:p.Leu22979Phe
XM_024453100.1:c.58789C>T (TTN) XP_024308868.1:p.Leu19597Phe