Canonical Allele Identifier: CA349503441

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551750A>G , CM000664.2:g.178551750A>G GRCh38
NC_000002.11:g.179416477A>G , CM000664.1:g.179416477A>G GRCh37
NC_000002.10:g.179124723A>G NCBI36
NG_011618.3:g.284053T>C , LRG_391:g.284053T>C
NG_051363.1:g.33924A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83446T>C (TTN) ENSP00000343764.6:p.Tyr27816His
ENST00000342175.11:c.64531T>C (TTN) ENSP00000340554.6:p.Tyr21511His
ENST00000359218.10:c.64330T>C (TTN) ENSP00000352154.5:p.Tyr21444His
ENST00000342175.10:c.64531T>C (TTN) ENSP00000340554.6:p.Tyr21511His
ENST00000342992.10:c.83446T>C (TTN) ENSP00000343764.6:p.Tyr27816His
ENST00000359218.9:c.64330T>C (TTN) ENSP00000352154.5:p.Tyr21444His
ENST00000460472.6:c.63955T>C (TTN) ENSP00000434586.1:p.Tyr21319His
ENST00000589042.5:c.91150T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr30384His
ENST00000591111.5:c.86227T>C (TTN) ENSP00000465570.1:p.Tyr28743His
ENST00000615779.4:c.86227T>C (TTN) ENSP00000483597.1:p.Tyr28743His
NM_001256850.1:c.86227T>C (TTN) NP_001243779.1:p.Tyr28743His
NM_001267550.2:c.91150T>C (TTN) MANE Select NP_001254479.2:p.Tyr30384His
NM_003319.4:c.63955T>C (TTN) NP_003310.4:p.Tyr21319His
NM_133378.4:c.83446T>C (TTN) NP_596869.4:p.Tyr27816His
NM_133432.3:c.64330T>C (TTN) NP_597676.3:p.Tyr21444His
NM_133437.4:c.64531T>C (TTN) NP_597681.4:p.Tyr21511His
NR_038271.1:n.447-19550A>G (TTN-AS1)
NR_038272.1:n.2043+9389A>G (TTN-AS1)
XM_011511729.1:c.90247T>C (TTN) XP_011510031.1:p.Tyr30083His
XM_011511730.1:c.64141T>C (TTN) XP_011510032.1:p.Tyr21381His
XM_011511731.1:c.64000T>C (TTN) XP_011510033.1:p.Tyr21334His
XM_017004819.1:c.90043T>C (TTN) XP_016860308.1:p.Tyr30015His
XM_017004820.1:c.85441T>C (TTN) XP_016860309.1:p.Tyr28481His
XM_017004821.1:c.85438T>C (TTN) XP_016860310.1:p.Tyr28480His
XM_017004822.1:c.82480T>C (TTN) XP_016860311.1:p.Tyr27494His
XM_017004823.1:c.64096T>C (TTN) XP_016860312.1:p.Tyr21366His
XM_024453094.1:c.85591T>C (TTN) XP_024308862.1:p.Tyr28531His
XM_024453095.1:c.85588T>C (TTN) XP_024308863.1:p.Tyr28530His
XM_024453096.1:c.85021T>C (TTN) XP_024308864.1:p.Tyr28341His
XM_024453097.1:c.82363T>C (TTN) XP_024308865.1:p.Tyr27455His
XM_024453098.1:c.82282T>C (TTN) XP_024308866.1:p.Tyr27428His
XM_024453099.1:c.64045T>C (TTN) XP_024308867.1:p.Tyr21349His
XM_024453100.1:c.53899T>C (TTN) XP_024308868.1:p.Tyr17967His