Canonical Allele Identifier: CA60974075
Community Standard Title: NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548583C>G , CM000664.2:g.178548583C>G GRCh38
NC_000002.11:g.179413310C>G , CM000664.1:g.179413310C>G GRCh37
NC_000002.10:g.179121556C>G NCBI36
NG_011618.3:g.287220G>C , LRG_391:g.287220G>C
NG_051363.1:g.30757C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.93043G>C (TTN) MANE Select NP_001254479.2:p.Asp31015His
ENST00000589042.5:c.93043G>C (TTN) MANE Select ENSP00000467141.1:p.Asp31015His
NM_001256850.1:c.88120G>C (TTN) NP_001243779.1:p.Asp29374His
NM_003319.4:c.65848G>C (TTN) NP_003310.4:p.Asp21950His
NM_133378.4:c.85339G>C (TTN) NP_596869.4:p.Asp28447His
NM_133432.3:c.66223G>C (TTN) NP_597676.3:p.Asp22075His
NM_133437.4:c.66424G>C (TTN) NP_597681.4:p.Asp22142His
NR_038271.1:n.447-22717C>G (TTN-AS1)
NR_038272.1:n.2043+6222C>G (TTN-AS1)
ENST00000342175.10:c.66424G>C (TTN) ENSP00000340554.6:p.Asp22142His
ENST00000342175.11:c.66424G>C (TTN) ENSP00000340554.6:p.Asp22142His
ENST00000342992.10:c.85339G>C (TTN) ENSP00000343764.6:p.Asp28447His
ENST00000342992.11:c.85339G>C (TTN) ENSP00000343764.6:p.Asp28447His
ENST00000359218.10:c.66223G>C (TTN) ENSP00000352154.5:p.Asp22075His
ENST00000359218.9:c.66223G>C (TTN) ENSP00000352154.5:p.Asp22075His
ENST00000460472.6:c.65848G>C (TTN) ENSP00000434586.1:p.Asp21950His
ENST00000591111.5:c.88120G>C (TTN) ENSP00000465570.1:p.Asp29374His
ENST00000615779.4:c.88120G>C (TTN) ENSP00000483597.1:p.Asp29374His
XM_011511729.1:c.92140G>C (TTN) XP_011510031.1:p.Asp30714His
XM_011511730.1:c.66034G>C (TTN) XP_011510032.1:p.Asp22012His
XM_011511731.1:c.65893G>C (TTN) XP_011510033.1:p.Asp21965His
XM_017004819.1:c.91936G>C (TTN) XP_016860308.1:p.Asp30646His
XM_017004820.1:c.87334G>C (TTN) XP_016860309.1:p.Asp29112His
XM_017004821.1:c.87331G>C (TTN) XP_016860310.1:p.Asp29111His
XM_017004822.1:c.84373G>C (TTN) XP_016860311.1:p.Asp28125His
XM_017004823.1:c.65989G>C (TTN) XP_016860312.1:p.Asp21997His
XM_024453094.1:c.87484G>C (TTN) XP_024308862.1:p.Asp29162His
XM_024453095.1:c.87481G>C (TTN) XP_024308863.1:p.Asp29161His
XM_024453096.1:c.86914G>C (TTN) XP_024308864.1:p.Asp28972His
XM_024453097.1:c.84256G>C (TTN) XP_024308865.1:p.Asp28086His
XM_024453098.1:c.84175G>C (TTN) XP_024308866.1:p.Asp28059His
XM_024453099.1:c.65938G>C (TTN) XP_024308867.1:p.Asp21980His
XM_024453100.1:c.55792G>C (TTN) XP_024308868.1:p.Asp18598His