Canonical Allele Identifier: CA349398781
Community Standard Title: NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527155A>T , CM000664.2:g.178527155A>T GRCh38
NC_000002.11:g.179391882A>T , CM000664.1:g.179391882A>T GRCh37
NC_000002.10:g.179100128A>T NCBI36
NG_011618.3:g.308648T>A , LRG_391:g.308648T>A
NG_051363.1:g.9329A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.107833T>A (TTN) MANE Select NP_001254479.2:p.Phe35945Ile
ENST00000589042.5:c.107833T>A (TTN) MANE Select ENSP00000467141.1:p.Phe35945Ile
NM_001256850.1:c.102910T>A (TTN) NP_001243779.1:p.Phe34304Ile
NM_003319.4:c.80638T>A (TTN) NP_003310.4:p.Phe26880Ile
NM_133378.4:c.100129T>A (TTN) NP_596869.4:p.Phe33377Ile
NM_133432.3:c.81013T>A (TTN) NP_597676.3:p.Phe27005Ile
NM_133437.4:c.81214T>A (TTN) NP_597681.4:p.Phe27072Ile
NR_038271.1:n.446+3519A>T (TTN-AS1)
NR_038272.1:n.219+3519A>T (TTN-AS1)
ENST00000342175.10:c.81214T>A (TTN) ENSP00000340554.6:p.Phe27072Ile
ENST00000342175.11:c.81214T>A (TTN) ENSP00000340554.6:p.Phe27072Ile
ENST00000342992.10:c.100129T>A (TTN) ENSP00000343764.6:p.Phe33377Ile
ENST00000342992.11:c.100129T>A (TTN) ENSP00000343764.6:p.Phe33377Ile
ENST00000359218.10:c.81013T>A (TTN) ENSP00000352154.5:p.Phe27005Ile
ENST00000359218.9:c.81013T>A (TTN) ENSP00000352154.5:p.Phe27005Ile
ENST00000460472.6:c.80638T>A (TTN) ENSP00000434586.1:p.Phe26880Ile
ENST00000591111.5:c.102910T>A (TTN) ENSP00000465570.1:p.Phe34304Ile
ENST00000615779.4:c.102910T>A (TTN) ENSP00000483597.1:p.Phe34304Ile
XM_011511729.1:c.106930T>A (TTN) XP_011510031.1:p.Phe35644Ile
XM_011511730.1:c.80824T>A (TTN) XP_011510032.1:p.Phe26942Ile
XM_011511731.1:c.80683T>A (TTN) XP_011510033.1:p.Phe26895Ile
XM_017004819.1:c.106726T>A (TTN) XP_016860308.1:p.Phe35576Ile
XM_017004820.1:c.102124T>A (TTN) XP_016860309.1:p.Phe34042Ile
XM_017004821.1:c.102121T>A (TTN) XP_016860310.1:p.Phe34041Ile
XM_017004822.1:c.99163T>A (TTN) XP_016860311.1:p.Phe33055Ile
XM_017004823.1:c.80779T>A (TTN) XP_016860312.1:p.Phe26927Ile
XM_024453094.1:c.102274T>A (TTN) XP_024308862.1:p.Phe34092Ile
XM_024453095.1:c.102271T>A (TTN) XP_024308863.1:p.Phe34091Ile
XM_024453096.1:c.101704T>A (TTN) XP_024308864.1:p.Phe33902Ile
XM_024453097.1:c.99046T>A (TTN) XP_024308865.1:p.Phe33016Ile
XM_024453098.1:c.98965T>A (TTN) XP_024308866.1:p.Phe32989Ile
XM_024453099.1:c.80728T>A (TTN) XP_024308867.1:p.Phe26910Ile
XM_024453100.1:c.70582T>A (TTN) XP_024308868.1:p.Phe23528Ile