Canonical Allele Identifier: CA349470126

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546617G>A , CM000664.2:g.178546617G>A GRCh38
NC_000002.11:g.179411344G>A , CM000664.1:g.179411344G>A GRCh37
NC_000002.10:g.179119590G>A NCBI36
NG_011618.3:g.289186C>T , LRG_391:g.289186C>T
NG_051363.1:g.28791G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87107C>T (TTN) ENSP00000343764.6:p.Thr29036Ile
ENST00000342175.11:c.68192C>T (TTN) ENSP00000340554.6:p.Thr22731Ile
ENST00000359218.10:c.67991C>T (TTN) ENSP00000352154.5:p.Thr22664Ile
ENST00000342175.10:c.68192C>T (TTN) ENSP00000340554.6:p.Thr22731Ile
ENST00000342992.10:c.87107C>T (TTN) ENSP00000343764.6:p.Thr29036Ile
ENST00000359218.9:c.67991C>T (TTN) ENSP00000352154.5:p.Thr22664Ile
ENST00000460472.6:c.67616C>T (TTN) ENSP00000434586.1:p.Thr22539Ile
ENST00000589042.5:c.94811C>T (TTN) MANE Select ENSP00000467141.1:p.Thr31604Ile
ENST00000591111.5:c.89888C>T (TTN) ENSP00000465570.1:p.Thr29963Ile
ENST00000615779.4:c.89888C>T (TTN) ENSP00000483597.1:p.Thr29963Ile
NM_001256850.1:c.89888C>T (TTN) NP_001243779.1:p.Thr29963Ile
NM_001267550.2:c.94811C>T (TTN) MANE Select NP_001254479.2:p.Thr31604Ile
NM_003319.4:c.67616C>T (TTN) NP_003310.4:p.Thr22539Ile
NM_133378.4:c.87107C>T (TTN) NP_596869.4:p.Thr29036Ile
NM_133432.3:c.67991C>T (TTN) NP_597676.3:p.Thr22664Ile
NM_133437.4:c.68192C>T (TTN) NP_597681.4:p.Thr22731Ile
NR_038271.1:n.446+22981G>A (TTN-AS1)
NR_038272.1:n.2043+4256G>A (TTN-AS1)
XM_011511729.1:c.93908C>T (TTN) XP_011510031.1:p.Thr31303Ile
XM_011511730.1:c.67802C>T (TTN) XP_011510032.1:p.Thr22601Ile
XM_011511731.1:c.67661C>T (TTN) XP_011510033.1:p.Thr22554Ile
XM_017004819.1:c.93704C>T (TTN) XP_016860308.1:p.Thr31235Ile
XM_017004820.1:c.89102C>T (TTN) XP_016860309.1:p.Thr29701Ile
XM_017004821.1:c.89099C>T (TTN) XP_016860310.1:p.Thr29700Ile
XM_017004822.1:c.86141C>T (TTN) XP_016860311.1:p.Thr28714Ile
XM_017004823.1:c.67757C>T (TTN) XP_016860312.1:p.Thr22586Ile
XM_024453094.1:c.89252C>T (TTN) XP_024308862.1:p.Thr29751Ile
XM_024453095.1:c.89249C>T (TTN) XP_024308863.1:p.Thr29750Ile
XM_024453096.1:c.88682C>T (TTN) XP_024308864.1:p.Thr29561Ile
XM_024453097.1:c.86024C>T (TTN) XP_024308865.1:p.Thr28675Ile
XM_024453098.1:c.85943C>T (TTN) XP_024308866.1:p.Thr28648Ile
XM_024453099.1:c.67706C>T (TTN) XP_024308867.1:p.Thr22569Ile
XM_024453100.1:c.57560C>T (TTN) XP_024308868.1:p.Thr19187Ile