Canonical Allele Identifier: CA349459746

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545476A>T , CM000664.2:g.178545476A>T GRCh38
NC_000002.11:g.179410203A>T , CM000664.1:g.179410203A>T GRCh37
NC_000002.10:g.179118449A>T NCBI36
NG_011618.3:g.290327T>A , LRG_391:g.290327T>A
NG_051363.1:g.27650A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87930T>A (TTN) ENSP00000343764.6:p.Asp29310Glu
ENST00000342175.11:c.69015T>A (TTN) ENSP00000340554.6:p.Asp23005Glu
ENST00000359218.10:c.68814T>A (TTN) ENSP00000352154.5:p.Asp22938Glu
ENST00000342175.10:c.69015T>A (TTN) ENSP00000340554.6:p.Asp23005Glu
ENST00000342992.10:c.87930T>A (TTN) ENSP00000343764.6:p.Asp29310Glu
ENST00000359218.9:c.68814T>A (TTN) ENSP00000352154.5:p.Asp22938Glu
ENST00000460472.6:c.68439T>A (TTN) ENSP00000434586.1:p.Asp22813Glu
ENST00000589042.5:c.95634T>A (TTN) MANE Select ENSP00000467141.1:p.Asp31878Glu
ENST00000591111.5:c.90711T>A (TTN) ENSP00000465570.1:p.Asp30237Glu
ENST00000615779.4:c.90711T>A (TTN) ENSP00000483597.1:p.Asp30237Glu
NM_001256850.1:c.90711T>A (TTN) NP_001243779.1:p.Asp30237Glu
NM_001267550.2:c.95634T>A (TTN) MANE Select NP_001254479.2:p.Asp31878Glu
NM_003319.4:c.68439T>A (TTN) NP_003310.4:p.Asp22813Glu
NM_133378.4:c.87930T>A (TTN) NP_596869.4:p.Asp29310Glu
NM_133432.3:c.68814T>A (TTN) NP_597676.3:p.Asp22938Glu
NM_133437.4:c.69015T>A (TTN) NP_597681.4:p.Asp23005Glu
NR_038271.1:n.446+21840A>T (TTN-AS1)
NR_038272.1:n.2043+3115A>T (TTN-AS1)
XM_011511729.1:c.94731T>A (TTN) XP_011510031.1:p.Asp31577Glu
XM_011511730.1:c.68625T>A (TTN) XP_011510032.1:p.Asp22875Glu
XM_011511731.1:c.68484T>A (TTN) XP_011510033.1:p.Asp22828Glu
XM_017004819.1:c.94527T>A (TTN) XP_016860308.1:p.Asp31509Glu
XM_017004820.1:c.89925T>A (TTN) XP_016860309.1:p.Asp29975Glu
XM_017004821.1:c.89922T>A (TTN) XP_016860310.1:p.Asp29974Glu
XM_017004822.1:c.86964T>A (TTN) XP_016860311.1:p.Asp28988Glu
XM_017004823.1:c.68580T>A (TTN) XP_016860312.1:p.Asp22860Glu
XM_024453094.1:c.90075T>A (TTN) XP_024308862.1:p.Asp30025Glu
XM_024453095.1:c.90072T>A (TTN) XP_024308863.1:p.Asp30024Glu
XM_024453096.1:c.89505T>A (TTN) XP_024308864.1:p.Asp29835Glu
XM_024453097.1:c.86847T>A (TTN) XP_024308865.1:p.Asp28949Glu
XM_024453098.1:c.86766T>A (TTN) XP_024308866.1:p.Asp28922Glu
XM_024453099.1:c.68529T>A (TTN) XP_024308867.1:p.Asp22843Glu
XM_024453100.1:c.58383T>A (TTN) XP_024308868.1:p.Asp19461Glu