Canonical Allele Identifier: CA349599733

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567036T>A , CM000664.2:g.178567036T>A GRCh38
NC_000002.11:g.179431763T>A , CM000664.1:g.179431763T>A GRCh37
NC_000002.10:g.179140009T>A NCBI36
NG_011618.3:g.268767A>T , LRG_391:g.268767A>T
NG_051363.1:g.49210T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79096A>T (TTN) MANE Select NP_001254479.2:p.Lys26366Ter
ENST00000589042.5:c.79096A>T (TTN) MANE Select ENSP00000467141.1:p.Lys26366Ter
NM_001256850.1:c.74173A>T (TTN) NP_001243779.1:p.Lys24725Ter
NM_003319.4:c.51901A>T (TTN) NP_003310.4:p.Lys17301Ter
NM_133378.4:c.71392A>T (TTN) NP_596869.4:p.Lys23798Ter
NM_133432.3:c.52276A>T (TTN) NP_597676.3:p.Lys17426Ter
NM_133437.4:c.52477A>T (TTN) NP_597681.4:p.Lys17493Ter
NR_038271.1:n.447-4264T>A (TTN-AS1)
NR_038272.1:n.2044-15536T>A (TTN-AS1)
ENST00000342175.10:c.52477A>T (TTN) ENSP00000340554.6:p.Lys17493Ter
ENST00000342175.11:c.52477A>T (TTN) ENSP00000340554.6:p.Lys17493Ter
ENST00000342992.10:c.71392A>T (TTN) ENSP00000343764.6:p.Lys23798Ter
ENST00000342992.11:c.71392A>T (TTN) ENSP00000343764.6:p.Lys23798Ter
ENST00000359218.10:c.52276A>T (TTN) ENSP00000352154.5:p.Lys17426Ter
ENST00000359218.9:c.52276A>T (TTN) ENSP00000352154.5:p.Lys17426Ter
ENST00000460472.6:c.51901A>T (TTN) ENSP00000434586.1:p.Lys17301Ter
ENST00000591111.5:c.74173A>T (TTN) ENSP00000465570.1:p.Lys24725Ter
ENST00000615779.4:c.74173A>T (TTN) ENSP00000483597.1:p.Lys24725Ter
XM_011511729.1:c.78193A>T (TTN) XP_011510031.1:p.Lys26065Ter
XM_011511730.1:c.52087A>T (TTN) XP_011510032.1:p.Lys17363Ter
XM_011511731.1:c.51946A>T (TTN) XP_011510033.1:p.Lys17316Ter
XM_017004819.1:c.77989A>T (TTN) XP_016860308.1:p.Lys25997Ter
XM_017004820.1:c.73387A>T (TTN) XP_016860309.1:p.Lys24463Ter
XM_017004821.1:c.73384A>T (TTN) XP_016860310.1:p.Lys24462Ter
XM_017004822.1:c.70426A>T (TTN) XP_016860311.1:p.Lys23476Ter
XM_017004823.1:c.52042A>T (TTN) XP_016860312.1:p.Lys17348Ter
XM_024453094.1:c.73537A>T (TTN) XP_024308862.1:p.Lys24513Ter
XM_024453095.1:c.73534A>T (TTN) XP_024308863.1:p.Lys24512Ter
XM_024453096.1:c.72967A>T (TTN) XP_024308864.1:p.Lys24323Ter
XM_024453097.1:c.70309A>T (TTN) XP_024308865.1:p.Lys23437Ter
XM_024453098.1:c.70228A>T (TTN) XP_024308866.1:p.Lys23410Ter
XM_024453099.1:c.51991A>T (TTN) XP_024308867.1:p.Lys17331Ter
XM_024453100.1:c.41845A>T (TTN) XP_024308868.1:p.Lys13949Ter