Canonical Allele Identifier: CA1993862

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607619A>G , CM000664.2:g.178607619A>G GRCh38
NC_000002.11:g.179472346A>G , CM000664.1:g.179472346A>G GRCh37
NC_000002.10:g.179180591A>G NCBI36
NG_011618.3:g.228184T>C , LRG_391:g.228184T>C
NG_051363.1:g.89793A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45365T>C (TTN) ENSP00000343764.6:p.Leu15122Pro
ENST00000342175.11:c.26450T>C (TTN) ENSP00000340554.6:p.Leu8817Pro
ENST00000359218.10:c.26249T>C (TTN) ENSP00000352154.5:p.Leu8750Pro
ENST00000342175.10:c.26450T>C (TTN) ENSP00000340554.6:p.Leu8817Pro
ENST00000342992.10:c.45365T>C (TTN) ENSP00000343764.6:p.Leu15122Pro
ENST00000359218.9:c.26249T>C (TTN) ENSP00000352154.5:p.Leu8750Pro
ENST00000460472.6:c.25874T>C (TTN) ENSP00000434586.1:p.Leu8625Pro
ENST00000589042.5:c.53069T>C (TTN) MANE Select ENSP00000467141.1:p.Leu17690Pro
ENST00000591111.5:c.48146T>C (TTN) ENSP00000465570.1:p.Leu16049Pro
ENST00000615779.4:c.48146T>C (TTN) ENSP00000483597.1:p.Leu16049Pro
NM_001256850.1:c.48146T>C (TTN) NP_001243779.1:p.Leu16049Pro
NM_001267550.2:c.53069T>C (TTN) MANE Select NP_001254479.2:p.Leu17690Pro
NM_003319.4:c.25874T>C (TTN) NP_003310.4:p.Leu8625Pro
NM_133378.4:c.45365T>C (TTN) NP_596869.4:p.Leu15122Pro
NM_133432.3:c.26249T>C (TTN) NP_597676.3:p.Leu8750Pro
NM_133437.4:c.26450T>C (TTN) NP_597681.4:p.Leu8817Pro
NR_038271.1:n.683-548A>G (TTN-AS1)
XM_011511729.1:c.52166T>C (TTN) XP_011510031.1:p.Leu17389Pro
XM_011511730.1:c.26060T>C (TTN) XP_011510032.1:p.Leu8687Pro
XM_011511731.1:c.25919T>C (TTN) XP_011510033.1:p.Leu8640Pro
XM_017004819.1:c.51962T>C (TTN) XP_016860308.1:p.Leu17321Pro
XM_017004820.1:c.47360T>C (TTN) XP_016860309.1:p.Leu15787Pro
XM_017004821.1:c.47357T>C (TTN) XP_016860310.1:p.Leu15786Pro
XM_017004822.1:c.44399T>C (TTN) XP_016860311.1:p.Leu14800Pro
XM_017004823.1:c.26015T>C (TTN) XP_016860312.1:p.Leu8672Pro
XM_024453094.1:c.47510T>C (TTN) XP_024308862.1:p.Leu15837Pro
XM_024453095.1:c.47507T>C (TTN) XP_024308863.1:p.Leu15836Pro
XM_024453096.1:c.46940T>C (TTN) XP_024308864.1:p.Leu15647Pro
XM_024453097.1:c.44282T>C (TTN) XP_024308865.1:p.Leu14761Pro
XM_024453098.1:c.44201T>C (TTN) XP_024308866.1:p.Leu14734Pro
XM_024453099.1:c.25964T>C (TTN) XP_024308867.1:p.Leu8655Pro
XM_024453100.1:c.15818T>C (TTN) XP_024308868.1:p.Leu5273Pro