Canonical Allele Identifier: CA349578190
Community Standard Title: NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609301G>A , CM000664.2:g.178609301G>A GRCh38
NC_000002.11:g.179474028G>A , CM000664.1:g.179474028G>A GRCh37
NC_000002.10:g.179182273G>A NCBI36
NG_011618.3:g.226502C>T , LRG_391:g.226502C>T
NG_051363.1:g.91475G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52009C>T (TTN) MANE Select NP_001254479.2:p.Arg17337Ter
ENST00000589042.5:c.52009C>T (TTN) MANE Select ENSP00000467141.1:p.Arg17337Ter
NM_001256850.1:c.47086C>T (TTN) NP_001243779.1:p.Arg15696Ter
NM_003319.4:c.24814C>T (TTN) NP_003310.4:p.Arg8272Ter
NM_133378.4:c.44305C>T (TTN) NP_596869.4:p.Arg14769Ter
NM_133432.3:c.25189C>T (TTN) NP_597676.3:p.Arg8397Ter
NM_133437.4:c.25390C>T (TTN) NP_597681.4:p.Arg8464Ter
NR_038271.1:n.782+1035G>A (TTN-AS1)
ENST00000342175.10:c.25390C>T (TTN) ENSP00000340554.6:p.Arg8464Ter
ENST00000342175.11:c.25390C>T (TTN) ENSP00000340554.6:p.Arg8464Ter
ENST00000342992.10:c.44305C>T (TTN) ENSP00000343764.6:p.Arg14769Ter
ENST00000342992.11:c.44305C>T (TTN) ENSP00000343764.6:p.Arg14769Ter
ENST00000359218.10:c.25189C>T (TTN) ENSP00000352154.5:p.Arg8397Ter
ENST00000359218.9:c.25189C>T (TTN) ENSP00000352154.5:p.Arg8397Ter
ENST00000460472.6:c.24814C>T (TTN) ENSP00000434586.1:p.Arg8272Ter
ENST00000591111.5:c.47086C>T (TTN) ENSP00000465570.1:p.Arg15696Ter
ENST00000615779.4:c.47086C>T (TTN) ENSP00000483597.1:p.Arg15696Ter
XM_011511729.1:c.51106C>T (TTN) XP_011510031.1:p.Arg17036Ter
XM_011511730.1:c.25000C>T (TTN) XP_011510032.1:p.Arg8334Ter
XM_011511731.1:c.24859C>T (TTN) XP_011510033.1:p.Arg8287Ter
XM_017004819.1:c.50902C>T (TTN) XP_016860308.1:p.Arg16968Ter
XM_017004820.1:c.46300C>T (TTN) XP_016860309.1:p.Arg15434Ter
XM_017004821.1:c.46297C>T (TTN) XP_016860310.1:p.Arg15433Ter
XM_017004822.1:c.43339C>T (TTN) XP_016860311.1:p.Arg14447Ter
XM_017004823.1:c.24955C>T (TTN) XP_016860312.1:p.Arg8319Ter
XM_024453094.1:c.46450C>T (TTN) XP_024308862.1:p.Arg15484Ter
XM_024453095.1:c.46447C>T (TTN) XP_024308863.1:p.Arg15483Ter
XM_024453096.1:c.45880C>T (TTN) XP_024308864.1:p.Arg15294Ter
XM_024453097.1:c.43222C>T (TTN) XP_024308865.1:p.Arg14408Ter
XM_024453098.1:c.43141C>T (TTN) XP_024308866.1:p.Arg14381Ter
XM_024453099.1:c.24904C>T (TTN) XP_024308867.1:p.Arg8302Ter
XM_024453100.1:c.14758C>T (TTN) XP_024308868.1:p.Arg4920Ter