Canonical Allele Identifier: CA349649732
Community Standard Title: NM_001267550.2(TTN):c.71912G>A (p.Trp23971Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574220C>T , CM000664.2:g.178574220C>T GRCh38
NC_000002.11:g.179438947C>T , CM000664.1:g.179438947C>T GRCh37
NC_000002.10:g.179147193C>T NCBI36
NG_011618.3:g.261583G>A , LRG_391:g.261583G>A
NG_051363.1:g.56394C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.71912G>A (TTN) MANE Select NP_001254479.2:p.Trp23971Ter
ENST00000589042.5:c.71912G>A (TTN) MANE Select ENSP00000467141.1:p.Trp23971Ter
NM_001256850.1:c.66989G>A (TTN) NP_001243779.1:p.Trp22330Ter
NM_003319.4:c.44717G>A (TTN) NP_003310.4:p.Trp14906Ter
NM_133378.4:c.64208G>A (TTN) NP_596869.4:p.Trp21403Ter
NM_133432.3:c.45092G>A (TTN) NP_597676.3:p.Trp15031Ter
NM_133437.4:c.45293G>A (TTN) NP_597681.4:p.Trp15098Ter
NR_038271.1:n.596+2771C>T (TTN-AS1)
NR_038272.1:n.2044-8352C>T (TTN-AS1)
ENST00000342175.10:c.45293G>A (TTN) ENSP00000340554.6:p.Trp15098Ter
ENST00000342175.11:c.45293G>A (TTN) ENSP00000340554.6:p.Trp15098Ter
ENST00000342992.10:c.64208G>A (TTN) ENSP00000343764.6:p.Trp21403Ter
ENST00000342992.11:c.64208G>A (TTN) ENSP00000343764.6:p.Trp21403Ter
ENST00000359218.10:c.45092G>A (TTN) ENSP00000352154.5:p.Trp15031Ter
ENST00000359218.9:c.45092G>A (TTN) ENSP00000352154.5:p.Trp15031Ter
ENST00000460472.6:c.44717G>A (TTN) ENSP00000434586.1:p.Trp14906Ter
ENST00000591111.5:c.66989G>A (TTN) ENSP00000465570.1:p.Trp22330Ter
ENST00000615779.4:c.66989G>A (TTN) ENSP00000483597.1:p.Trp22330Ter
XM_011511729.1:c.71009G>A (TTN) XP_011510031.1:p.Trp23670Ter
XM_011511730.1:c.44903G>A (TTN) XP_011510032.1:p.Trp14968Ter
XM_011511731.1:c.44762G>A (TTN) XP_011510033.1:p.Trp14921Ter
XM_017004819.1:c.70805G>A (TTN) XP_016860308.1:p.Trp23602Ter
XM_017004820.1:c.66203G>A (TTN) XP_016860309.1:p.Trp22068Ter
XM_017004821.1:c.66200G>A (TTN) XP_016860310.1:p.Trp22067Ter
XM_017004822.1:c.63242G>A (TTN) XP_016860311.1:p.Trp21081Ter
XM_017004823.1:c.44858G>A (TTN) XP_016860312.1:p.Trp14953Ter
XM_024453094.1:c.66353G>A (TTN) XP_024308862.1:p.Trp22118Ter
XM_024453095.1:c.66350G>A (TTN) XP_024308863.1:p.Trp22117Ter
XM_024453096.1:c.65783G>A (TTN) XP_024308864.1:p.Trp21928Ter
XM_024453097.1:c.63125G>A (TTN) XP_024308865.1:p.Trp21042Ter
XM_024453098.1:c.63044G>A (TTN) XP_024308866.1:p.Trp21015Ter
XM_024453099.1:c.44807G>A (TTN) XP_024308867.1:p.Trp14936Ter
XM_024453100.1:c.34661G>A (TTN) XP_024308868.1:p.Trp11554Ter