Canonical Allele Identifier: CA349607599

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614634T>A , CM000664.2:g.178614634T>A GRCh38
NC_000002.11:g.179479361T>A , CM000664.1:g.179479361T>A GRCh37
NC_000002.10:g.179187606T>A NCBI36
NG_011618.3:g.221169A>T , LRG_391:g.221169A>T
NG_051363.1:g.96808T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41176A>T (TTN) ENSP00000343764.6:p.Lys13726Ter
ENST00000342175.11:c.22261A>T (TTN) ENSP00000340554.6:p.Lys7421Ter
ENST00000359218.10:c.22060A>T (TTN) ENSP00000352154.5:p.Lys7354Ter
ENST00000342175.10:c.22261A>T (TTN) ENSP00000340554.6:p.Lys7421Ter
ENST00000342992.10:c.41176A>T (TTN) ENSP00000343764.6:p.Lys13726Ter
ENST00000359218.9:c.22060A>T (TTN) ENSP00000352154.5:p.Lys7354Ter
ENST00000460472.6:c.21685A>T (TTN) ENSP00000434586.1:p.Lys7229Ter
ENST00000589042.5:c.48880A>T (TTN) MANE Select ENSP00000467141.1:p.Lys16294Ter
ENST00000591111.5:c.43957A>T (TTN) ENSP00000465570.1:p.Lys14653Ter
ENST00000615779.4:c.43957A>T (TTN) ENSP00000483597.1:p.Lys14653Ter
NM_001256850.1:c.43957A>T (TTN) NP_001243779.1:p.Lys14653Ter
NM_001267550.2:c.48880A>T (TTN) MANE Select NP_001254479.2:p.Lys16294Ter
NM_003319.4:c.21685A>T (TTN) NP_003310.4:p.Lys7229Ter
NM_133378.4:c.41176A>T (TTN) NP_596869.4:p.Lys13726Ter
NM_133432.3:c.22060A>T (TTN) NP_597676.3:p.Lys7354Ter
NM_133437.4:c.22261A>T (TTN) NP_597681.4:p.Lys7421Ter
NR_038271.1:n.1382T>A (TTN-AS1)
XM_011511729.1:c.47977A>T (TTN) XP_011510031.1:p.Lys15993Ter
XM_011511730.1:c.21871A>T (TTN) XP_011510032.1:p.Lys7291Ter
XM_011511731.1:c.21730A>T (TTN) XP_011510033.1:p.Lys7244Ter
XM_017004819.1:c.47773A>T (TTN) XP_016860308.1:p.Lys15925Ter
XM_017004820.1:c.43171A>T (TTN) XP_016860309.1:p.Lys14391Ter
XM_017004821.1:c.43168A>T (TTN) XP_016860310.1:p.Lys14390Ter
XM_017004822.1:c.40210A>T (TTN) XP_016860311.1:p.Lys13404Ter
XM_017004823.1:c.21826A>T (TTN) XP_016860312.1:p.Lys7276Ter
XM_024453094.1:c.43321A>T (TTN) XP_024308862.1:p.Lys14441Ter
XM_024453095.1:c.43318A>T (TTN) XP_024308863.1:p.Lys14440Ter
XM_024453096.1:c.42751A>T (TTN) XP_024308864.1:p.Lys14251Ter
XM_024453097.1:c.40093A>T (TTN) XP_024308865.1:p.Lys13365Ter
XM_024453098.1:c.40012A>T (TTN) XP_024308866.1:p.Lys13338Ter
XM_024453099.1:c.21775A>T (TTN) XP_024308867.1:p.Lys7259Ter
XM_024453100.1:c.11629A>T (TTN) XP_024308868.1:p.Lys3877Ter