Canonical Allele Identifier: CA60962232
Community Standard Title: NM_001267550.2(TTN):c.64810C>T (p.Arg21604Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584831G>A , CM000664.2:g.178584831G>A GRCh38
NC_000002.11:g.179449558G>A , CM000664.1:g.179449558G>A GRCh37
NC_000002.10:g.179157804G>A NCBI36
NG_011618.3:g.250972C>T , LRG_391:g.250972C>T
NG_051363.1:g.67005G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64810C>T (TTN) MANE Select NP_001254479.2:p.Arg21604Ter
ENST00000589042.5:c.64810C>T (TTN) MANE Select ENSP00000467141.1:p.Arg21604Ter
NM_001256850.1:c.59887C>T (TTN) NP_001243779.1:p.Arg19963Ter
NM_003319.4:c.37615C>T (TTN) NP_003310.4:p.Arg12539Ter
NM_133378.4:c.57106C>T (TTN) NP_596869.4:p.Arg19036Ter
NM_133432.3:c.37990C>T (TTN) NP_597676.3:p.Arg12664Ter
NM_133437.4:c.38191C>T (TTN) NP_597681.4:p.Arg12731Ter
NR_038271.1:n.597-12765G>A (TTN-AS1)
NR_038272.1:n.3026G>A (TTN-AS1)
ENST00000342175.10:c.38191C>T (TTN) ENSP00000340554.6:p.Arg12731Ter
ENST00000342175.11:c.38191C>T (TTN) ENSP00000340554.6:p.Arg12731Ter
ENST00000342992.10:c.57106C>T (TTN) ENSP00000343764.6:p.Arg19036Ter
ENST00000342992.11:c.57106C>T (TTN) ENSP00000343764.6:p.Arg19036Ter
ENST00000359218.10:c.37990C>T (TTN) ENSP00000352154.5:p.Arg12664Ter
ENST00000359218.9:c.37990C>T (TTN) ENSP00000352154.5:p.Arg12664Ter
ENST00000460472.6:c.37615C>T (TTN) ENSP00000434586.1:p.Arg12539Ter
ENST00000591111.5:c.59887C>T (TTN) ENSP00000465570.1:p.Arg19963Ter
ENST00000615779.4:c.59887C>T (TTN) ENSP00000483597.1:p.Arg19963Ter
XM_011511729.1:c.63907C>T (TTN) XP_011510031.1:p.Arg21303Ter
XM_011511730.1:c.37801C>T (TTN) XP_011510032.1:p.Arg12601Ter
XM_011511731.1:c.37660C>T (TTN) XP_011510033.1:p.Arg12554Ter
XM_017004819.1:c.63703C>T (TTN) XP_016860308.1:p.Arg21235Ter
XM_017004820.1:c.59101C>T (TTN) XP_016860309.1:p.Arg19701Ter
XM_017004821.1:c.59098C>T (TTN) XP_016860310.1:p.Arg19700Ter
XM_017004822.1:c.56140C>T (TTN) XP_016860311.1:p.Arg18714Ter
XM_017004823.1:c.37756C>T (TTN) XP_016860312.1:p.Arg12586Ter
XM_024453094.1:c.59251C>T (TTN) XP_024308862.1:p.Arg19751Ter
XM_024453095.1:c.59248C>T (TTN) XP_024308863.1:p.Arg19750Ter
XM_024453096.1:c.58681C>T (TTN) XP_024308864.1:p.Arg19561Ter
XM_024453097.1:c.56023C>T (TTN) XP_024308865.1:p.Arg18675Ter
XM_024453098.1:c.55942C>T (TTN) XP_024308866.1:p.Arg18648Ter
XM_024453099.1:c.37705C>T (TTN) XP_024308867.1:p.Arg12569Ter
XM_024453100.1:c.27559C>T (TTN) XP_024308868.1:p.Arg9187Ter