Canonical Allele Identifier: CA1988902
Community Standard Title: NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562557T>C , CM000664.2:g.178562557T>C GRCh38
NC_000002.11:g.179427284T>C , CM000664.1:g.179427284T>C GRCh37
NC_000002.10:g.179135530T>C NCBI36
NG_011618.3:g.273246A>G , LRG_391:g.273246A>G
NG_051363.1:g.44731T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83575A>G (TTN) MANE Select NP_001254479.2:p.Lys27859Glu
ENST00000589042.5:c.83575A>G (TTN) MANE Select ENSP00000467141.1:p.Lys27859Glu
NM_001256850.1:c.78652A>G (TTN) NP_001243779.1:p.Lys26218Glu
NM_003319.4:c.56380A>G (TTN) NP_003310.4:p.Lys18794Glu
NM_133378.4:c.75871A>G (TTN) NP_596869.4:p.Lys25291Glu
NM_133432.3:c.56755A>G (TTN) NP_597676.3:p.Lys18919Glu
NM_133437.4:c.56956A>G (TTN) NP_597681.4:p.Lys18986Glu
NR_038271.1:n.447-8743T>C (TTN-AS1)
NR_038272.1:n.2044-20015T>C (TTN-AS1)
ENST00000342175.10:c.56956A>G (TTN) ENSP00000340554.6:p.Lys18986Glu
ENST00000342175.11:c.56956A>G (TTN) ENSP00000340554.6:p.Lys18986Glu
ENST00000342992.10:c.75871A>G (TTN) ENSP00000343764.6:p.Lys25291Glu
ENST00000342992.11:c.75871A>G (TTN) ENSP00000343764.6:p.Lys25291Glu
ENST00000359218.10:c.56755A>G (TTN) ENSP00000352154.5:p.Lys18919Glu
ENST00000359218.9:c.56755A>G (TTN) ENSP00000352154.5:p.Lys18919Glu
ENST00000460472.6:c.56380A>G (TTN) ENSP00000434586.1:p.Lys18794Glu
ENST00000591111.5:c.78652A>G (TTN) ENSP00000465570.1:p.Lys26218Glu
ENST00000615779.4:c.78652A>G (TTN) ENSP00000483597.1:p.Lys26218Glu
XM_011511729.1:c.82672A>G (TTN) XP_011510031.1:p.Lys27558Glu
XM_011511730.1:c.56566A>G (TTN) XP_011510032.1:p.Lys18856Glu
XM_011511731.1:c.56425A>G (TTN) XP_011510033.1:p.Lys18809Glu
XM_017004819.1:c.82468A>G (TTN) XP_016860308.1:p.Lys27490Glu
XM_017004820.1:c.77866A>G (TTN) XP_016860309.1:p.Lys25956Glu
XM_017004821.1:c.77863A>G (TTN) XP_016860310.1:p.Lys25955Glu
XM_017004822.1:c.74905A>G (TTN) XP_016860311.1:p.Lys24969Glu
XM_017004823.1:c.56521A>G (TTN) XP_016860312.1:p.Lys18841Glu
XM_024453094.1:c.78016A>G (TTN) XP_024308862.1:p.Lys26006Glu
XM_024453095.1:c.78013A>G (TTN) XP_024308863.1:p.Lys26005Glu
XM_024453096.1:c.77446A>G (TTN) XP_024308864.1:p.Lys25816Glu
XM_024453097.1:c.74788A>G (TTN) XP_024308865.1:p.Lys24930Glu
XM_024453098.1:c.74707A>G (TTN) XP_024308866.1:p.Lys24903Glu
XM_024453099.1:c.56470A>G (TTN) XP_024308867.1:p.Lys18824Glu
XM_024453100.1:c.46324A>G (TTN) XP_024308868.1:p.Lys15442Glu