Canonical Allele Identifier: CA349451083

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543912A>G , CM000664.2:g.178543912A>G GRCh38
NC_000002.11:g.179408639A>G , CM000664.1:g.179408639A>G GRCh37
NC_000002.10:g.179116885A>G NCBI36
NG_011618.3:g.291891T>C , LRG_391:g.291891T>C
NG_051363.1:g.26086A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88528T>C (TTN) ENSP00000343764.6:p.Tyr29510His
ENST00000342175.11:c.69613T>C (TTN) ENSP00000340554.6:p.Tyr23205His
ENST00000359218.10:c.69412T>C (TTN) ENSP00000352154.5:p.Tyr23138His
ENST00000342175.10:c.69613T>C (TTN) ENSP00000340554.6:p.Tyr23205His
ENST00000342992.10:c.88528T>C (TTN) ENSP00000343764.6:p.Tyr29510His
ENST00000359218.9:c.69412T>C (TTN) ENSP00000352154.5:p.Tyr23138His
ENST00000460472.6:c.69037T>C (TTN) ENSP00000434586.1:p.Tyr23013His
ENST00000589042.5:c.96232T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr32078His
ENST00000591111.5:c.91309T>C (TTN) ENSP00000465570.1:p.Tyr30437His
ENST00000615779.4:c.91309T>C (TTN) ENSP00000483597.1:p.Tyr30437His
NM_001256850.1:c.91309T>C (TTN) NP_001243779.1:p.Tyr30437His
NM_001267550.2:c.96232T>C (TTN) MANE Select NP_001254479.2:p.Tyr32078His
NM_003319.4:c.69037T>C (TTN) NP_003310.4:p.Tyr23013His
NM_133378.4:c.88528T>C (TTN) NP_596869.4:p.Tyr29510His
NM_133432.3:c.69412T>C (TTN) NP_597676.3:p.Tyr23138His
NM_133437.4:c.69613T>C (TTN) NP_597681.4:p.Tyr23205His
NR_038271.1:n.446+20276A>G (TTN-AS1)
NR_038272.1:n.2043+1551A>G (TTN-AS1)
XM_011511729.1:c.95329T>C (TTN) XP_011510031.1:p.Tyr31777His
XM_011511730.1:c.69223T>C (TTN) XP_011510032.1:p.Tyr23075His
XM_011511731.1:c.69082T>C (TTN) XP_011510033.1:p.Tyr23028His
XM_017004819.1:c.95125T>C (TTN) XP_016860308.1:p.Tyr31709His
XM_017004820.1:c.90523T>C (TTN) XP_016860309.1:p.Tyr30175His
XM_017004821.1:c.90520T>C (TTN) XP_016860310.1:p.Tyr30174His
XM_017004822.1:c.87562T>C (TTN) XP_016860311.1:p.Tyr29188His
XM_017004823.1:c.69178T>C (TTN) XP_016860312.1:p.Tyr23060His
XM_024453094.1:c.90673T>C (TTN) XP_024308862.1:p.Tyr30225His
XM_024453095.1:c.90670T>C (TTN) XP_024308863.1:p.Tyr30224His
XM_024453096.1:c.90103T>C (TTN) XP_024308864.1:p.Tyr30035His
XM_024453097.1:c.87445T>C (TTN) XP_024308865.1:p.Tyr29149His
XM_024453098.1:c.87364T>C (TTN) XP_024308866.1:p.Tyr29122His
XM_024453099.1:c.69127T>C (TTN) XP_024308867.1:p.Tyr23043His
XM_024453100.1:c.58981T>C (TTN) XP_024308868.1:p.Tyr19661His