Canonical Allele Identifier: CA349594326

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566440A>T , CM000664.2:g.178566440A>T GRCh38
NC_000002.11:g.179431167A>T , CM000664.1:g.179431167A>T GRCh37
NC_000002.10:g.179139413A>T NCBI36
NG_011618.3:g.269363T>A , LRG_391:g.269363T>A
NG_051363.1:g.48614A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71988T>A (TTN) ENSP00000343764.6:p.Cys23996Ter
ENST00000342175.11:c.53073T>A (TTN) ENSP00000340554.6:p.Cys17691Ter
ENST00000359218.10:c.52872T>A (TTN) ENSP00000352154.5:p.Cys17624Ter
ENST00000342175.10:c.53073T>A (TTN) ENSP00000340554.6:p.Cys17691Ter
ENST00000342992.10:c.71988T>A (TTN) ENSP00000343764.6:p.Cys23996Ter
ENST00000359218.9:c.52872T>A (TTN) ENSP00000352154.5:p.Cys17624Ter
ENST00000460472.6:c.52497T>A (TTN) ENSP00000434586.1:p.Cys17499Ter
ENST00000589042.5:c.79692T>A (TTN) MANE Select ENSP00000467141.1:p.Cys26564Ter
ENST00000591111.5:c.74769T>A (TTN) ENSP00000465570.1:p.Cys24923Ter
ENST00000615779.4:c.74769T>A (TTN) ENSP00000483597.1:p.Cys24923Ter
NM_001256850.1:c.74769T>A (TTN) NP_001243779.1:p.Cys24923Ter
NM_001267550.2:c.79692T>A (TTN) MANE Select NP_001254479.2:p.Cys26564Ter
NM_003319.4:c.52497T>A (TTN) NP_003310.4:p.Cys17499Ter
NM_133378.4:c.71988T>A (TTN) NP_596869.4:p.Cys23996Ter
NM_133432.3:c.52872T>A (TTN) NP_597676.3:p.Cys17624Ter
NM_133437.4:c.53073T>A (TTN) NP_597681.4:p.Cys17691Ter
NR_038271.1:n.447-4860A>T (TTN-AS1)
NR_038272.1:n.2044-16132A>T (TTN-AS1)
XM_011511729.1:c.78789T>A (TTN) XP_011510031.1:p.Cys26263Ter
XM_011511730.1:c.52683T>A (TTN) XP_011510032.1:p.Cys17561Ter
XM_011511731.1:c.52542T>A (TTN) XP_011510033.1:p.Cys17514Ter
XM_017004819.1:c.78585T>A (TTN) XP_016860308.1:p.Cys26195Ter
XM_017004820.1:c.73983T>A (TTN) XP_016860309.1:p.Cys24661Ter
XM_017004821.1:c.73980T>A (TTN) XP_016860310.1:p.Cys24660Ter
XM_017004822.1:c.71022T>A (TTN) XP_016860311.1:p.Cys23674Ter
XM_017004823.1:c.52638T>A (TTN) XP_016860312.1:p.Cys17546Ter
XM_024453094.1:c.74133T>A (TTN) XP_024308862.1:p.Cys24711Ter
XM_024453095.1:c.74130T>A (TTN) XP_024308863.1:p.Cys24710Ter
XM_024453096.1:c.73563T>A (TTN) XP_024308864.1:p.Cys24521Ter
XM_024453097.1:c.70905T>A (TTN) XP_024308865.1:p.Cys23635Ter
XM_024453098.1:c.70824T>A (TTN) XP_024308866.1:p.Cys23608Ter
XM_024453099.1:c.52587T>A (TTN) XP_024308867.1:p.Cys17529Ter
XM_024453100.1:c.42441T>A (TTN) XP_024308868.1:p.Cys14147Ter