Canonical Allele Identifier: CA349402945
Community Standard Title: NM_001267550.2(TTN):c.106828A>T (p.Lys35610Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178528923T>A , CM000664.2:g.178528923T>A GRCh38
NC_000002.11:g.179393650T>A , CM000664.1:g.179393650T>A GRCh37
NC_000002.10:g.179101896T>A NCBI36
NG_011618.3:g.306880A>T , LRG_391:g.306880A>T
NG_051363.1:g.11097T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.106828A>T (TTN) MANE Select NP_001254479.2:p.Lys35610Ter
ENST00000589042.5:c.106828A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35610Ter
NM_001256850.1:c.101905A>T (TTN) NP_001243779.1:p.Lys33969Ter
NM_003319.4:c.79633A>T (TTN) NP_003310.4:p.Lys26545Ter
NM_133378.4:c.99124A>T (TTN) NP_596869.4:p.Lys33042Ter
NM_133432.3:c.80008A>T (TTN) NP_597676.3:p.Lys26670Ter
NM_133437.4:c.80209A>T (TTN) NP_597681.4:p.Lys26737Ter
NR_038271.1:n.446+5287T>A (TTN-AS1)
NR_038272.1:n.219+5287T>A (TTN-AS1)
ENST00000342175.10:c.80209A>T (TTN) ENSP00000340554.6:p.Lys26737Ter
ENST00000342175.11:c.80209A>T (TTN) ENSP00000340554.6:p.Lys26737Ter
ENST00000342992.10:c.99124A>T (TTN) ENSP00000343764.6:p.Lys33042Ter
ENST00000342992.11:c.99124A>T (TTN) ENSP00000343764.6:p.Lys33042Ter
ENST00000359218.10:c.80008A>T (TTN) ENSP00000352154.5:p.Lys26670Ter
ENST00000359218.9:c.80008A>T (TTN) ENSP00000352154.5:p.Lys26670Ter
ENST00000460472.6:c.79633A>T (TTN) ENSP00000434586.1:p.Lys26545Ter
ENST00000591111.5:c.101905A>T (TTN) ENSP00000465570.1:p.Lys33969Ter
ENST00000615779.4:c.101905A>T (TTN) ENSP00000483597.1:p.Lys33969Ter
XM_011511729.1:c.105925A>T (TTN) XP_011510031.1:p.Lys35309Ter
XM_011511730.1:c.79819A>T (TTN) XP_011510032.1:p.Lys26607Ter
XM_011511731.1:c.79678A>T (TTN) XP_011510033.1:p.Lys26560Ter
XM_017004819.1:c.105721A>T (TTN) XP_016860308.1:p.Lys35241Ter
XM_017004820.1:c.101119A>T (TTN) XP_016860309.1:p.Lys33707Ter
XM_017004821.1:c.101116A>T (TTN) XP_016860310.1:p.Lys33706Ter
XM_017004822.1:c.98158A>T (TTN) XP_016860311.1:p.Lys32720Ter
XM_017004823.1:c.79774A>T (TTN) XP_016860312.1:p.Lys26592Ter
XM_024453094.1:c.101269A>T (TTN) XP_024308862.1:p.Lys33757Ter
XM_024453095.1:c.101266A>T (TTN) XP_024308863.1:p.Lys33756Ter
XM_024453096.1:c.100699A>T (TTN) XP_024308864.1:p.Lys33567Ter
XM_024453097.1:c.98041A>T (TTN) XP_024308865.1:p.Lys32681Ter
XM_024453098.1:c.97960A>T (TTN) XP_024308866.1:p.Lys32654Ter
XM_024453099.1:c.79723A>T (TTN) XP_024308867.1:p.Lys26575Ter
XM_024453100.1:c.69577A>T (TTN) XP_024308868.1:p.Lys23193Ter