Canonical Allele Identifier: CA349544898

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559838A>T , CM000664.2:g.178559838A>T GRCh38
NC_000002.11:g.179424565A>T , CM000664.1:g.179424565A>T GRCh37
NC_000002.10:g.179132811A>T NCBI36
NG_011618.3:g.275965T>A , LRG_391:g.275965T>A
NG_051363.1:g.42012A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78590T>A (TTN) ENSP00000343764.6:p.Ile26197Asn
ENST00000342175.11:c.59675T>A (TTN) ENSP00000340554.6:p.Ile19892Asn
ENST00000359218.10:c.59474T>A (TTN) ENSP00000352154.5:p.Ile19825Asn
ENST00000342175.10:c.59675T>A (TTN) ENSP00000340554.6:p.Ile19892Asn
ENST00000342992.10:c.78590T>A (TTN) ENSP00000343764.6:p.Ile26197Asn
ENST00000359218.9:c.59474T>A (TTN) ENSP00000352154.5:p.Ile19825Asn
ENST00000460472.6:c.59099T>A (TTN) ENSP00000434586.1:p.Ile19700Asn
ENST00000589042.5:c.86294T>A (TTN) MANE Select ENSP00000467141.1:p.Ile28765Asn
ENST00000591111.5:c.81371T>A (TTN) ENSP00000465570.1:p.Ile27124Asn
ENST00000615779.4:c.81371T>A (TTN) ENSP00000483597.1:p.Ile27124Asn
NM_001256850.1:c.81371T>A (TTN) NP_001243779.1:p.Ile27124Asn
NM_001267550.2:c.86294T>A (TTN) MANE Select NP_001254479.2:p.Ile28765Asn
NM_003319.4:c.59099T>A (TTN) NP_003310.4:p.Ile19700Asn
NM_133378.4:c.78590T>A (TTN) NP_596869.4:p.Ile26197Asn
NM_133432.3:c.59474T>A (TTN) NP_597676.3:p.Ile19825Asn
NM_133437.4:c.59675T>A (TTN) NP_597681.4:p.Ile19892Asn
NR_038271.1:n.447-11462A>T (TTN-AS1)
NR_038272.1:n.2043+17477A>T (TTN-AS1)
XM_011511729.1:c.85391T>A (TTN) XP_011510031.1:p.Ile28464Asn
XM_011511730.1:c.59285T>A (TTN) XP_011510032.1:p.Ile19762Asn
XM_011511731.1:c.59144T>A (TTN) XP_011510033.1:p.Ile19715Asn
XM_017004819.1:c.85187T>A (TTN) XP_016860308.1:p.Ile28396Asn
XM_017004820.1:c.80585T>A (TTN) XP_016860309.1:p.Ile26862Asn
XM_017004821.1:c.80582T>A (TTN) XP_016860310.1:p.Ile26861Asn
XM_017004822.1:c.77624T>A (TTN) XP_016860311.1:p.Ile25875Asn
XM_017004823.1:c.59240T>A (TTN) XP_016860312.1:p.Ile19747Asn
XM_024453094.1:c.80735T>A (TTN) XP_024308862.1:p.Ile26912Asn
XM_024453095.1:c.80732T>A (TTN) XP_024308863.1:p.Ile26911Asn
XM_024453096.1:c.80165T>A (TTN) XP_024308864.1:p.Ile26722Asn
XM_024453097.1:c.77507T>A (TTN) XP_024308865.1:p.Ile25836Asn
XM_024453098.1:c.77426T>A (TTN) XP_024308866.1:p.Ile25809Asn
XM_024453099.1:c.59189T>A (TTN) XP_024308867.1:p.Ile19730Asn
XM_024453100.1:c.49043T>A (TTN) XP_024308868.1:p.Ile16348Asn