Canonical Allele Identifier: CA349504201

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551852A>G , CM000664.2:g.178551852A>G GRCh38
NC_000002.11:g.179416579A>G , CM000664.1:g.179416579A>G GRCh37
NC_000002.10:g.179124825A>G NCBI36
NG_011618.3:g.283951T>C , LRG_391:g.283951T>C
NG_051363.1:g.34026A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83344T>C (TTN) ENSP00000343764.6:p.Tyr27782His
ENST00000342175.11:c.64429T>C (TTN) ENSP00000340554.6:p.Tyr21477His
ENST00000359218.10:c.64228T>C (TTN) ENSP00000352154.5:p.Tyr21410His
ENST00000342175.10:c.64429T>C (TTN) ENSP00000340554.6:p.Tyr21477His
ENST00000342992.10:c.83344T>C (TTN) ENSP00000343764.6:p.Tyr27782His
ENST00000359218.9:c.64228T>C (TTN) ENSP00000352154.5:p.Tyr21410His
ENST00000460472.6:c.63853T>C (TTN) ENSP00000434586.1:p.Tyr21285His
ENST00000589042.5:c.91048T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr30350His
ENST00000591111.5:c.86125T>C (TTN) ENSP00000465570.1:p.Tyr28709His
ENST00000615779.4:c.86125T>C (TTN) ENSP00000483597.1:p.Tyr28709His
NM_001256850.1:c.86125T>C (TTN) NP_001243779.1:p.Tyr28709His
NM_001267550.2:c.91048T>C (TTN) MANE Select NP_001254479.2:p.Tyr30350His
NM_003319.4:c.63853T>C (TTN) NP_003310.4:p.Tyr21285His
NM_133378.4:c.83344T>C (TTN) NP_596869.4:p.Tyr27782His
NM_133432.3:c.64228T>C (TTN) NP_597676.3:p.Tyr21410His
NM_133437.4:c.64429T>C (TTN) NP_597681.4:p.Tyr21477His
NR_038271.1:n.447-19448A>G (TTN-AS1)
NR_038272.1:n.2043+9491A>G (TTN-AS1)
XM_011511729.1:c.90145T>C (TTN) XP_011510031.1:p.Tyr30049His
XM_011511730.1:c.64039T>C (TTN) XP_011510032.1:p.Tyr21347His
XM_011511731.1:c.63898T>C (TTN) XP_011510033.1:p.Tyr21300His
XM_017004819.1:c.89941T>C (TTN) XP_016860308.1:p.Tyr29981His
XM_017004820.1:c.85339T>C (TTN) XP_016860309.1:p.Tyr28447His
XM_017004821.1:c.85336T>C (TTN) XP_016860310.1:p.Tyr28446His
XM_017004822.1:c.82378T>C (TTN) XP_016860311.1:p.Tyr27460His
XM_017004823.1:c.63994T>C (TTN) XP_016860312.1:p.Tyr21332His
XM_024453094.1:c.85489T>C (TTN) XP_024308862.1:p.Tyr28497His
XM_024453095.1:c.85486T>C (TTN) XP_024308863.1:p.Tyr28496His
XM_024453096.1:c.84919T>C (TTN) XP_024308864.1:p.Tyr28307His
XM_024453097.1:c.82261T>C (TTN) XP_024308865.1:p.Tyr27421His
XM_024453098.1:c.82180T>C (TTN) XP_024308866.1:p.Tyr27394His
XM_024453099.1:c.63943T>C (TTN) XP_024308867.1:p.Tyr21315His
XM_024453100.1:c.53797T>C (TTN) XP_024308868.1:p.Tyr17933His