Canonical Allele Identifier: CA349551989

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560527C>A , CM000664.2:g.178560527C>A GRCh38
NC_000002.11:g.179425254C>A , CM000664.1:g.179425254C>A GRCh37
NC_000002.10:g.179133500C>A NCBI36
NG_011618.3:g.275276G>T , LRG_391:g.275276G>T
NG_051363.1:g.42701C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.77901G>T (TTN) ENSP00000343764.6:p.Glu25967Asp
ENST00000342175.11:c.58986G>T (TTN) ENSP00000340554.6:p.Glu19662Asp
ENST00000359218.10:c.58785G>T (TTN) ENSP00000352154.5:p.Glu19595Asp
ENST00000342175.10:c.58986G>T (TTN) ENSP00000340554.6:p.Glu19662Asp
ENST00000342992.10:c.77901G>T (TTN) ENSP00000343764.6:p.Glu25967Asp
ENST00000359218.9:c.58785G>T (TTN) ENSP00000352154.5:p.Glu19595Asp
ENST00000460472.6:c.58410G>T (TTN) ENSP00000434586.1:p.Glu19470Asp
ENST00000589042.5:c.85605G>T (TTN) MANE Select ENSP00000467141.1:p.Glu28535Asp
ENST00000591111.5:c.80682G>T (TTN) ENSP00000465570.1:p.Glu26894Asp
ENST00000615779.4:c.80682G>T (TTN) ENSP00000483597.1:p.Glu26894Asp
NM_001256850.1:c.80682G>T (TTN) NP_001243779.1:p.Glu26894Asp
NM_001267550.2:c.85605G>T (TTN) MANE Select NP_001254479.2:p.Glu28535Asp
NM_003319.4:c.58410G>T (TTN) NP_003310.4:p.Glu19470Asp
NM_133378.4:c.77901G>T (TTN) NP_596869.4:p.Glu25967Asp
NM_133432.3:c.58785G>T (TTN) NP_597676.3:p.Glu19595Asp
NM_133437.4:c.58986G>T (TTN) NP_597681.4:p.Glu19662Asp
NR_038271.1:n.447-10773C>A (TTN-AS1)
NR_038272.1:n.2043+18166C>A (TTN-AS1)
XM_011511729.1:c.84702G>T (TTN) XP_011510031.1:p.Glu28234Asp
XM_011511730.1:c.58596G>T (TTN) XP_011510032.1:p.Glu19532Asp
XM_011511731.1:c.58455G>T (TTN) XP_011510033.1:p.Glu19485Asp
XM_017004819.1:c.84498G>T (TTN) XP_016860308.1:p.Glu28166Asp
XM_017004820.1:c.79896G>T (TTN) XP_016860309.1:p.Glu26632Asp
XM_017004821.1:c.79893G>T (TTN) XP_016860310.1:p.Glu26631Asp
XM_017004822.1:c.76935G>T (TTN) XP_016860311.1:p.Glu25645Asp
XM_017004823.1:c.58551G>T (TTN) XP_016860312.1:p.Glu19517Asp
XM_024453094.1:c.80046G>T (TTN) XP_024308862.1:p.Glu26682Asp
XM_024453095.1:c.80043G>T (TTN) XP_024308863.1:p.Glu26681Asp
XM_024453096.1:c.79476G>T (TTN) XP_024308864.1:p.Glu26492Asp
XM_024453097.1:c.76818G>T (TTN) XP_024308865.1:p.Glu25606Asp
XM_024453098.1:c.76737G>T (TTN) XP_024308866.1:p.Glu25579Asp
XM_024453099.1:c.58500G>T (TTN) XP_024308867.1:p.Glu19500Asp
XM_024453100.1:c.48354G>T (TTN) XP_024308868.1:p.Glu16118Asp