Canonical Allele Identifier: CA1993596
Community Standard Title: NM_001267550.2(TTN):c.54652C>T (p.Arg18218Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604035G>A , CM000664.2:g.178604035G>A GRCh38
NC_000002.11:g.179468762G>A , CM000664.1:g.179468762G>A GRCh37
NC_000002.10:g.179177007G>A NCBI36
NG_011618.3:g.231768C>T , LRG_391:g.231768C>T
NG_051363.1:g.86209G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54652C>T (TTN) MANE Select NP_001254479.2:p.Arg18218Ter
ENST00000589042.5:c.54652C>T (TTN) MANE Select ENSP00000467141.1:p.Arg18218Ter
NM_001256850.1:c.49729C>T (TTN) NP_001243779.1:p.Arg16577Ter
NM_003319.4:c.27457C>T (TTN) NP_003310.4:p.Arg9153Ter
NM_133378.4:c.46948C>T (TTN) NP_596869.4:p.Arg15650Ter
NM_133432.3:c.27832C>T (TTN) NP_597676.3:p.Arg9278Ter
NM_133437.4:c.28033C>T (TTN) NP_597681.4:p.Arg9345Ter
NR_038271.1:n.683-4132G>A (TTN-AS1)
NR_038272.1:n.3918-696G>A (TTN-AS1)
ENST00000342175.10:c.28033C>T (TTN) ENSP00000340554.6:p.Arg9345Ter
ENST00000342175.11:c.28033C>T (TTN) ENSP00000340554.6:p.Arg9345Ter
ENST00000342992.10:c.46948C>T (TTN) ENSP00000343764.6:p.Arg15650Ter
ENST00000342992.11:c.46948C>T (TTN) ENSP00000343764.6:p.Arg15650Ter
ENST00000359218.10:c.27832C>T (TTN) ENSP00000352154.5:p.Arg9278Ter
ENST00000359218.9:c.27832C>T (TTN) ENSP00000352154.5:p.Arg9278Ter
ENST00000460472.6:c.27457C>T (TTN) ENSP00000434586.1:p.Arg9153Ter
ENST00000591111.5:c.49729C>T (TTN) ENSP00000465570.1:p.Arg16577Ter
ENST00000615779.4:c.49729C>T (TTN) ENSP00000483597.1:p.Arg16577Ter
XM_011511729.1:c.53749C>T (TTN) XP_011510031.1:p.Arg17917Ter
XM_011511730.1:c.27643C>T (TTN) XP_011510032.1:p.Arg9215Ter
XM_011511731.1:c.27502C>T (TTN) XP_011510033.1:p.Arg9168Ter
XM_017004819.1:c.53545C>T (TTN) XP_016860308.1:p.Arg17849Ter
XM_017004820.1:c.48943C>T (TTN) XP_016860309.1:p.Arg16315Ter
XM_017004821.1:c.48940C>T (TTN) XP_016860310.1:p.Arg16314Ter
XM_017004822.1:c.45982C>T (TTN) XP_016860311.1:p.Arg15328Ter
XM_017004823.1:c.27598C>T (TTN) XP_016860312.1:p.Arg9200Ter
XM_024453094.1:c.49093C>T (TTN) XP_024308862.1:p.Arg16365Ter
XM_024453095.1:c.49090C>T (TTN) XP_024308863.1:p.Arg16364Ter
XM_024453096.1:c.48523C>T (TTN) XP_024308864.1:p.Arg16175Ter
XM_024453097.1:c.45865C>T (TTN) XP_024308865.1:p.Arg15289Ter
XM_024453098.1:c.45784C>T (TTN) XP_024308866.1:p.Arg15262Ter
XM_024453099.1:c.27547C>T (TTN) XP_024308867.1:p.Arg9183Ter
XM_024453100.1:c.17401C>T (TTN) XP_024308868.1:p.Arg5801Ter