Canonical Allele Identifier: CA430253299
Community Standard Title: NM_001267550.2(TTN):c.77746T>C (p.Leu25916=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568386A>G , CM000664.2:g.178568386A>G GRCh38
NC_000002.11:g.179433113A>G , CM000664.1:g.179433113A>G GRCh37
NC_000002.10:g.179141359A>G NCBI36
NG_011618.3:g.267417T>C , LRG_391:g.267417T>C
NG_051363.1:g.50560A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77746T>C (TTN) MANE Select NP_001254479.2:p.Leu25916=
ENST00000589042.5:c.77746T>C (TTN) MANE Select ENSP00000467141.1:p.Leu25916=
NM_001256850.1:c.72823T>C (TTN) NP_001243779.1:p.Leu24275=
NM_003319.4:c.50551T>C (TTN) NP_003310.4:p.Leu16851=
NM_133378.4:c.70042T>C (TTN) NP_596869.4:p.Leu23348=
NM_133432.3:c.50926T>C (TTN) NP_597676.3:p.Leu16976=
NM_133437.4:c.51127T>C (TTN) NP_597681.4:p.Leu17043=
NR_038271.1:n.447-2914A>G (TTN-AS1)
NR_038272.1:n.2044-14186A>G (TTN-AS1)
ENST00000342175.10:c.51127T>C (TTN) ENSP00000340554.6:p.Leu17043=
ENST00000342175.11:c.51127T>C (TTN) ENSP00000340554.6:p.Leu17043=
ENST00000342992.10:c.70042T>C (TTN) ENSP00000343764.6:p.Leu23348=
ENST00000342992.11:c.70042T>C (TTN) ENSP00000343764.6:p.Leu23348=
ENST00000359218.10:c.50926T>C (TTN) ENSP00000352154.5:p.Leu16976=
ENST00000359218.9:c.50926T>C (TTN) ENSP00000352154.5:p.Leu16976=
ENST00000460472.6:c.50551T>C (TTN) ENSP00000434586.1:p.Leu16851=
ENST00000591111.5:c.72823T>C (TTN) ENSP00000465570.1:p.Leu24275=
ENST00000615779.4:c.72823T>C (TTN) ENSP00000483597.1:p.Leu24275=
XM_011511729.1:c.76843T>C (TTN) XP_011510031.1:p.Leu25615=
XM_011511730.1:c.50737T>C (TTN) XP_011510032.1:p.Leu16913=
XM_011511731.1:c.50596T>C (TTN) XP_011510033.1:p.Leu16866=
XM_017004819.1:c.76639T>C (TTN) XP_016860308.1:p.Leu25547=
XM_017004820.1:c.72037T>C (TTN) XP_016860309.1:p.Leu24013=
XM_017004821.1:c.72034T>C (TTN) XP_016860310.1:p.Leu24012=
XM_017004822.1:c.69076T>C (TTN) XP_016860311.1:p.Leu23026=
XM_017004823.1:c.50692T>C (TTN) XP_016860312.1:p.Leu16898=
XM_024453094.1:c.72187T>C (TTN) XP_024308862.1:p.Leu24063=
XM_024453095.1:c.72184T>C (TTN) XP_024308863.1:p.Leu24062=
XM_024453096.1:c.71617T>C (TTN) XP_024308864.1:p.Leu23873=
XM_024453097.1:c.68959T>C (TTN) XP_024308865.1:p.Leu22987=
XM_024453098.1:c.68878T>C (TTN) XP_024308866.1:p.Leu22960=
XM_024453099.1:c.50641T>C (TTN) XP_024308867.1:p.Leu16881=
XM_024453100.1:c.40495T>C (TTN) XP_024308868.1:p.Leu13499=