Canonical Allele Identifier: CA1990449
Community Standard Title: NM_001267550.2(TTN):c.72802C>T (p.Arg24268Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573330G>A , CM000664.2:g.178573330G>A GRCh38
NC_000002.11:g.179438057G>A , CM000664.1:g.179438057G>A GRCh37
NC_000002.10:g.179146303G>A NCBI36
NG_011618.3:g.262473C>T , LRG_391:g.262473C>T
NG_051363.1:g.55504G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.72802C>T (TTN) MANE Select NP_001254479.2:p.Arg24268Cys
ENST00000589042.5:c.72802C>T (TTN) MANE Select ENSP00000467141.1:p.Arg24268Cys
NM_001256850.1:c.67879C>T (TTN) NP_001243779.1:p.Arg22627Cys
NM_003319.4:c.45607C>T (TTN) NP_003310.4:p.Arg15203Cys
NM_133378.4:c.65098C>T (TTN) NP_596869.4:p.Arg21700Cys
NM_133432.3:c.45982C>T (TTN) NP_597676.3:p.Arg15328Cys
NM_133437.4:c.46183C>T (TTN) NP_597681.4:p.Arg15395Cys
NR_038271.1:n.596+1881G>A (TTN-AS1)
NR_038272.1:n.2044-9242G>A (TTN-AS1)
ENST00000342175.10:c.46183C>T (TTN) ENSP00000340554.6:p.Arg15395Cys
ENST00000342175.11:c.46183C>T (TTN) ENSP00000340554.6:p.Arg15395Cys
ENST00000342992.10:c.65098C>T (TTN) ENSP00000343764.6:p.Arg21700Cys
ENST00000342992.11:c.65098C>T (TTN) ENSP00000343764.6:p.Arg21700Cys
ENST00000359218.10:c.45982C>T (TTN) ENSP00000352154.5:p.Arg15328Cys
ENST00000359218.9:c.45982C>T (TTN) ENSP00000352154.5:p.Arg15328Cys
ENST00000460472.6:c.45607C>T (TTN) ENSP00000434586.1:p.Arg15203Cys
ENST00000591111.5:c.67879C>T (TTN) ENSP00000465570.1:p.Arg22627Cys
ENST00000615779.4:c.67879C>T (TTN) ENSP00000483597.1:p.Arg22627Cys
XM_011511729.1:c.71899C>T (TTN) XP_011510031.1:p.Arg23967Cys
XM_011511730.1:c.45793C>T (TTN) XP_011510032.1:p.Arg15265Cys
XM_011511731.1:c.45652C>T (TTN) XP_011510033.1:p.Arg15218Cys
XM_017004819.1:c.71695C>T (TTN) XP_016860308.1:p.Arg23899Cys
XM_017004820.1:c.67093C>T (TTN) XP_016860309.1:p.Arg22365Cys
XM_017004821.1:c.67090C>T (TTN) XP_016860310.1:p.Arg22364Cys
XM_017004822.1:c.64132C>T (TTN) XP_016860311.1:p.Arg21378Cys
XM_017004823.1:c.45748C>T (TTN) XP_016860312.1:p.Arg15250Cys
XM_024453094.1:c.67243C>T (TTN) XP_024308862.1:p.Arg22415Cys
XM_024453095.1:c.67240C>T (TTN) XP_024308863.1:p.Arg22414Cys
XM_024453096.1:c.66673C>T (TTN) XP_024308864.1:p.Arg22225Cys
XM_024453097.1:c.64015C>T (TTN) XP_024308865.1:p.Arg21339Cys
XM_024453098.1:c.63934C>T (TTN) XP_024308866.1:p.Arg21312Cys
XM_024453099.1:c.45697C>T (TTN) XP_024308867.1:p.Arg15233Cys
XM_024453100.1:c.35551C>T (TTN) XP_024308868.1:p.Arg11851Cys