Canonical Allele Identifier: CA349466277

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546217A>T , CM000664.2:g.178546217A>T GRCh38
NC_000002.11:g.179410944A>T , CM000664.1:g.179410944A>T GRCh37
NC_000002.10:g.179119190A>T NCBI36
NG_011618.3:g.289586T>A , LRG_391:g.289586T>A
NG_051363.1:g.28391A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87410T>A (TTN) ENSP00000343764.6:p.Val29137Glu
ENST00000342175.11:c.68495T>A (TTN) ENSP00000340554.6:p.Val22832Glu
ENST00000359218.10:c.68294T>A (TTN) ENSP00000352154.5:p.Val22765Glu
ENST00000342175.10:c.68495T>A (TTN) ENSP00000340554.6:p.Val22832Glu
ENST00000342992.10:c.87410T>A (TTN) ENSP00000343764.6:p.Val29137Glu
ENST00000359218.9:c.68294T>A (TTN) ENSP00000352154.5:p.Val22765Glu
ENST00000460472.6:c.67919T>A (TTN) ENSP00000434586.1:p.Val22640Glu
ENST00000589042.5:c.95114T>A (TTN) MANE Select ENSP00000467141.1:p.Val31705Glu
ENST00000591111.5:c.90191T>A (TTN) ENSP00000465570.1:p.Val30064Glu
ENST00000615779.4:c.90191T>A (TTN) ENSP00000483597.1:p.Val30064Glu
NM_001256850.1:c.90191T>A (TTN) NP_001243779.1:p.Val30064Glu
NM_001267550.2:c.95114T>A (TTN) MANE Select NP_001254479.2:p.Val31705Glu
NM_003319.4:c.67919T>A (TTN) NP_003310.4:p.Val22640Glu
NM_133378.4:c.87410T>A (TTN) NP_596869.4:p.Val29137Glu
NM_133432.3:c.68294T>A (TTN) NP_597676.3:p.Val22765Glu
NM_133437.4:c.68495T>A (TTN) NP_597681.4:p.Val22832Glu
NR_038271.1:n.446+22581A>T (TTN-AS1)
NR_038272.1:n.2043+3856A>T (TTN-AS1)
XM_011511729.1:c.94211T>A (TTN) XP_011510031.1:p.Val31404Glu
XM_011511730.1:c.68105T>A (TTN) XP_011510032.1:p.Val22702Glu
XM_011511731.1:c.67964T>A (TTN) XP_011510033.1:p.Val22655Glu
XM_017004819.1:c.94007T>A (TTN) XP_016860308.1:p.Val31336Glu
XM_017004820.1:c.89405T>A (TTN) XP_016860309.1:p.Val29802Glu
XM_017004821.1:c.89402T>A (TTN) XP_016860310.1:p.Val29801Glu
XM_017004822.1:c.86444T>A (TTN) XP_016860311.1:p.Val28815Glu
XM_017004823.1:c.68060T>A (TTN) XP_016860312.1:p.Val22687Glu
XM_024453094.1:c.89555T>A (TTN) XP_024308862.1:p.Val29852Glu
XM_024453095.1:c.89552T>A (TTN) XP_024308863.1:p.Val29851Glu
XM_024453096.1:c.88985T>A (TTN) XP_024308864.1:p.Val29662Glu
XM_024453097.1:c.86327T>A (TTN) XP_024308865.1:p.Val28776Glu
XM_024453098.1:c.86246T>A (TTN) XP_024308866.1:p.Val28749Glu
XM_024453099.1:c.68009T>A (TTN) XP_024308867.1:p.Val22670Glu
XM_024453100.1:c.57863T>A (TTN) XP_024308868.1:p.Val19288Glu