Canonical Allele Identifier: CA349503989

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551833A>T , CM000664.2:g.178551833A>T GRCh38
NC_000002.11:g.179416560A>T , CM000664.1:g.179416560A>T GRCh37
NC_000002.10:g.179124806A>T NCBI36
NG_011618.3:g.283970T>A , LRG_391:g.283970T>A
NG_051363.1:g.34007A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83363T>A (TTN) ENSP00000343764.6:p.Val27788Asp
ENST00000342175.11:c.64448T>A (TTN) ENSP00000340554.6:p.Val21483Asp
ENST00000359218.10:c.64247T>A (TTN) ENSP00000352154.5:p.Val21416Asp
ENST00000342175.10:c.64448T>A (TTN) ENSP00000340554.6:p.Val21483Asp
ENST00000342992.10:c.83363T>A (TTN) ENSP00000343764.6:p.Val27788Asp
ENST00000359218.9:c.64247T>A (TTN) ENSP00000352154.5:p.Val21416Asp
ENST00000460472.6:c.63872T>A (TTN) ENSP00000434586.1:p.Val21291Asp
ENST00000589042.5:c.91067T>A (TTN) MANE Select ENSP00000467141.1:p.Val30356Asp
ENST00000591111.5:c.86144T>A (TTN) ENSP00000465570.1:p.Val28715Asp
ENST00000615779.4:c.86144T>A (TTN) ENSP00000483597.1:p.Val28715Asp
NM_001256850.1:c.86144T>A (TTN) NP_001243779.1:p.Val28715Asp
NM_001267550.2:c.91067T>A (TTN) MANE Select NP_001254479.2:p.Val30356Asp
NM_003319.4:c.63872T>A (TTN) NP_003310.4:p.Val21291Asp
NM_133378.4:c.83363T>A (TTN) NP_596869.4:p.Val27788Asp
NM_133432.3:c.64247T>A (TTN) NP_597676.3:p.Val21416Asp
NM_133437.4:c.64448T>A (TTN) NP_597681.4:p.Val21483Asp
NR_038271.1:n.447-19467A>T (TTN-AS1)
NR_038272.1:n.2043+9472A>T (TTN-AS1)
XM_011511729.1:c.90164T>A (TTN) XP_011510031.1:p.Val30055Asp
XM_011511730.1:c.64058T>A (TTN) XP_011510032.1:p.Val21353Asp
XM_011511731.1:c.63917T>A (TTN) XP_011510033.1:p.Val21306Asp
XM_017004819.1:c.89960T>A (TTN) XP_016860308.1:p.Val29987Asp
XM_017004820.1:c.85358T>A (TTN) XP_016860309.1:p.Val28453Asp
XM_017004821.1:c.85355T>A (TTN) XP_016860310.1:p.Val28452Asp
XM_017004822.1:c.82397T>A (TTN) XP_016860311.1:p.Val27466Asp
XM_017004823.1:c.64013T>A (TTN) XP_016860312.1:p.Val21338Asp
XM_024453094.1:c.85508T>A (TTN) XP_024308862.1:p.Val28503Asp
XM_024453095.1:c.85505T>A (TTN) XP_024308863.1:p.Val28502Asp
XM_024453096.1:c.84938T>A (TTN) XP_024308864.1:p.Val28313Asp
XM_024453097.1:c.82280T>A (TTN) XP_024308865.1:p.Val27427Asp
XM_024453098.1:c.82199T>A (TTN) XP_024308866.1:p.Val27400Asp
XM_024453099.1:c.63962T>A (TTN) XP_024308867.1:p.Val21321Asp
XM_024453100.1:c.53816T>A (TTN) XP_024308868.1:p.Val17939Asp