Canonical Allele Identifier: CA349601344

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567394A>C , CM000664.2:g.178567394A>C GRCh38
NC_000002.11:g.179432121A>C , CM000664.1:g.179432121A>C GRCh37
NC_000002.10:g.179140367A>C NCBI36
NG_011618.3:g.268409T>G , LRG_391:g.268409T>G
NG_051363.1:g.49568A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71034T>G (TTN) ENSP00000343764.6:p.Asp23678Glu
ENST00000342175.11:c.52119T>G (TTN) ENSP00000340554.6:p.Asp17373Glu
ENST00000359218.10:c.51918T>G (TTN) ENSP00000352154.5:p.Asp17306Glu
ENST00000342175.10:c.52119T>G (TTN) ENSP00000340554.6:p.Asp17373Glu
ENST00000342992.10:c.71034T>G (TTN) ENSP00000343764.6:p.Asp23678Glu
ENST00000359218.9:c.51918T>G (TTN) ENSP00000352154.5:p.Asp17306Glu
ENST00000460472.6:c.51543T>G (TTN) ENSP00000434586.1:p.Asp17181Glu
ENST00000589042.5:c.78738T>G (TTN) MANE Select ENSP00000467141.1:p.Asp26246Glu
ENST00000591111.5:c.73815T>G (TTN) ENSP00000465570.1:p.Asp24605Glu
ENST00000615779.4:c.73815T>G (TTN) ENSP00000483597.1:p.Asp24605Glu
NM_001256850.1:c.73815T>G (TTN) NP_001243779.1:p.Asp24605Glu
NM_001267550.2:c.78738T>G (TTN) MANE Select NP_001254479.2:p.Asp26246Glu
NM_003319.4:c.51543T>G (TTN) NP_003310.4:p.Asp17181Glu
NM_133378.4:c.71034T>G (TTN) NP_596869.4:p.Asp23678Glu
NM_133432.3:c.51918T>G (TTN) NP_597676.3:p.Asp17306Glu
NM_133437.4:c.52119T>G (TTN) NP_597681.4:p.Asp17373Glu
NR_038271.1:n.447-3906A>C (TTN-AS1)
NR_038272.1:n.2044-15178A>C (TTN-AS1)
XM_011511729.1:c.77835T>G (TTN) XP_011510031.1:p.Asp25945Glu
XM_011511730.1:c.51729T>G (TTN) XP_011510032.1:p.Asp17243Glu
XM_011511731.1:c.51588T>G (TTN) XP_011510033.1:p.Asp17196Glu
XM_017004819.1:c.77631T>G (TTN) XP_016860308.1:p.Asp25877Glu
XM_017004820.1:c.73029T>G (TTN) XP_016860309.1:p.Asp24343Glu
XM_017004821.1:c.73026T>G (TTN) XP_016860310.1:p.Asp24342Glu
XM_017004822.1:c.70068T>G (TTN) XP_016860311.1:p.Asp23356Glu
XM_017004823.1:c.51684T>G (TTN) XP_016860312.1:p.Asp17228Glu
XM_024453094.1:c.73179T>G (TTN) XP_024308862.1:p.Asp24393Glu
XM_024453095.1:c.73176T>G (TTN) XP_024308863.1:p.Asp24392Glu
XM_024453096.1:c.72609T>G (TTN) XP_024308864.1:p.Asp24203Glu
XM_024453097.1:c.69951T>G (TTN) XP_024308865.1:p.Asp23317Glu
XM_024453098.1:c.69870T>G (TTN) XP_024308866.1:p.Asp23290Glu
XM_024453099.1:c.51633T>G (TTN) XP_024308867.1:p.Asp17211Glu
XM_024453100.1:c.41487T>G (TTN) XP_024308868.1:p.Asp13829Glu