Canonical Allele Identifier: CA141296

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547580C>T , CM000664.2:g.178547580C>T GRCh38
NC_000002.11:g.179412307C>T , CM000664.1:g.179412307C>T GRCh37
NC_000002.10:g.179120553C>T NCBI36
NG_011618.3:g.288223G>A , LRG_391:g.288223G>A
NG_051363.1:g.29754C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86342G>A (TTN) ENSP00000343764.6:p.Arg28781His
ENST00000342175.11:c.67427G>A (TTN) ENSP00000340554.6:p.Arg22476His
ENST00000359218.10:c.67226G>A (TTN) ENSP00000352154.5:p.Arg22409His
ENST00000342175.10:c.67427G>A (TTN) ENSP00000340554.6:p.Arg22476His
ENST00000342992.10:c.86342G>A (TTN) ENSP00000343764.6:p.Arg28781His
ENST00000359218.9:c.67226G>A (TTN) ENSP00000352154.5:p.Arg22409His
ENST00000460472.6:c.66851G>A (TTN) ENSP00000434586.1:p.Arg22284His
ENST00000589042.5:c.94046G>A (TTN) MANE Select ENSP00000467141.1:p.Arg31349His
ENST00000591111.5:c.89123G>A (TTN) ENSP00000465570.1:p.Arg29708His
ENST00000615779.4:c.89123G>A (TTN) ENSP00000483597.1:p.Arg29708His
NM_001256850.1:c.89123G>A (TTN) NP_001243779.1:p.Arg29708His
NM_001267550.2:c.94046G>A (TTN) MANE Select NP_001254479.2:p.Arg31349His
NM_003319.4:c.66851G>A (TTN) NP_003310.4:p.Arg22284His
NM_133378.4:c.86342G>A (TTN) NP_596869.4:p.Arg28781His
NM_133432.3:c.67226G>A (TTN) NP_597676.3:p.Arg22409His
NM_133437.4:c.67427G>A (TTN) NP_597681.4:p.Arg22476His
NR_038271.1:n.447-23720C>T (TTN-AS1)
NR_038272.1:n.2043+5219C>T (TTN-AS1)
XM_011511729.1:c.93143G>A (TTN) XP_011510031.1:p.Arg31048His
XM_011511730.1:c.67037G>A (TTN) XP_011510032.1:p.Arg22346His
XM_011511731.1:c.66896G>A (TTN) XP_011510033.1:p.Arg22299His
XM_017004819.1:c.92939G>A (TTN) XP_016860308.1:p.Arg30980His
XM_017004820.1:c.88337G>A (TTN) XP_016860309.1:p.Arg29446His
XM_017004821.1:c.88334G>A (TTN) XP_016860310.1:p.Arg29445His
XM_017004822.1:c.85376G>A (TTN) XP_016860311.1:p.Arg28459His
XM_017004823.1:c.66992G>A (TTN) XP_016860312.1:p.Arg22331His
XM_024453094.1:c.88487G>A (TTN) XP_024308862.1:p.Arg29496His
XM_024453095.1:c.88484G>A (TTN) XP_024308863.1:p.Arg29495His
XM_024453096.1:c.87917G>A (TTN) XP_024308864.1:p.Arg29306His
XM_024453097.1:c.85259G>A (TTN) XP_024308865.1:p.Arg28420His
XM_024453098.1:c.85178G>A (TTN) XP_024308866.1:p.Arg28393His
XM_024453099.1:c.66941G>A (TTN) XP_024308867.1:p.Arg22314His
XM_024453100.1:c.56795G>A (TTN) XP_024308868.1:p.Arg18932His