Canonical Allele Identifier: CA349495612
Community Standard Title: NM_001267550.2(TTN):c.59158C>T (p.Gln19720Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592961G>A , CM000664.2:g.178592961G>A GRCh38
NC_000002.11:g.179457688G>A , CM000664.1:g.179457688G>A GRCh37
NC_000002.10:g.179165934G>A NCBI36
NG_011618.3:g.242842C>T , LRG_391:g.242842C>T
NG_051363.1:g.75135G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.59158C>T (TTN) MANE Select NP_001254479.2:p.Gln19720Ter
ENST00000589042.5:c.59158C>T (TTN) MANE Select ENSP00000467141.1:p.Gln19720Ter
NM_001256850.1:c.54235C>T (TTN) NP_001243779.1:p.Gln18079Ter
NM_003319.4:c.31963C>T (TTN) NP_003310.4:p.Gln10655Ter
NM_133378.4:c.51454C>T (TTN) NP_596869.4:p.Gln17152Ter
NM_133432.3:c.32338C>T (TTN) NP_597676.3:p.Gln10780Ter
NM_133437.4:c.32539C>T (TTN) NP_597681.4:p.Gln10847Ter
NR_038271.1:n.597-4635G>A (TTN-AS1)
NR_038272.1:n.3364+1647G>A (TTN-AS1)
ENST00000342175.10:c.32539C>T (TTN) ENSP00000340554.6:p.Gln10847Ter
ENST00000342175.11:c.32539C>T (TTN) ENSP00000340554.6:p.Gln10847Ter
ENST00000342992.10:c.51454C>T (TTN) ENSP00000343764.6:p.Gln17152Ter
ENST00000342992.11:c.51454C>T (TTN) ENSP00000343764.6:p.Gln17152Ter
ENST00000359218.10:c.32338C>T (TTN) ENSP00000352154.5:p.Gln10780Ter
ENST00000359218.9:c.32338C>T (TTN) ENSP00000352154.5:p.Gln10780Ter
ENST00000460472.6:c.31963C>T (TTN) ENSP00000434586.1:p.Gln10655Ter
ENST00000591111.5:c.54235C>T (TTN) ENSP00000465570.1:p.Gln18079Ter
ENST00000615779.4:c.54235C>T (TTN) ENSP00000483597.1:p.Gln18079Ter
XM_011511729.1:c.58255C>T (TTN) XP_011510031.1:p.Gln19419Ter
XM_011511730.1:c.32149C>T (TTN) XP_011510032.1:p.Gln10717Ter
XM_011511731.1:c.32008C>T (TTN) XP_011510033.1:p.Gln10670Ter
XM_017004819.1:c.58051C>T (TTN) XP_016860308.1:p.Gln19351Ter
XM_017004820.1:c.53449C>T (TTN) XP_016860309.1:p.Gln17817Ter
XM_017004821.1:c.53446C>T (TTN) XP_016860310.1:p.Gln17816Ter
XM_017004822.1:c.50488C>T (TTN) XP_016860311.1:p.Gln16830Ter
XM_017004823.1:c.32104C>T (TTN) XP_016860312.1:p.Gln10702Ter
XM_024453094.1:c.53599C>T (TTN) XP_024308862.1:p.Gln17867Ter
XM_024453095.1:c.53596C>T (TTN) XP_024308863.1:p.Gln17866Ter
XM_024453096.1:c.53029C>T (TTN) XP_024308864.1:p.Gln17677Ter
XM_024453097.1:c.50371C>T (TTN) XP_024308865.1:p.Gln16791Ter
XM_024453098.1:c.50290C>T (TTN) XP_024308866.1:p.Gln16764Ter
XM_024453099.1:c.32053C>T (TTN) XP_024308867.1:p.Gln10685Ter
XM_024453100.1:c.21907C>T (TTN) XP_024308868.1:p.Gln7303Ter