Canonical Allele Identifier: CA349407200

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530593G>A , CM000664.2:g.178530593G>A GRCh38
NC_000002.11:g.179395320G>A , CM000664.1:g.179395320G>A GRCh37
NC_000002.10:g.179103566G>A NCBI36
NG_011618.3:g.305210C>T , LRG_391:g.305210C>T
NG_051363.1:g.12767G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98318C>T (TTN) ENSP00000343764.6:p.Thr32773Ile
ENST00000342175.11:c.79403C>T (TTN) ENSP00000340554.6:p.Thr26468Ile
ENST00000359218.10:c.79202C>T (TTN) ENSP00000352154.5:p.Thr26401Ile
ENST00000342175.10:c.79403C>T (TTN) ENSP00000340554.6:p.Thr26468Ile
ENST00000342992.10:c.98318C>T (TTN) ENSP00000343764.6:p.Thr32773Ile
ENST00000359218.9:c.79202C>T (TTN) ENSP00000352154.5:p.Thr26401Ile
ENST00000460472.6:c.78827C>T (TTN) ENSP00000434586.1:p.Thr26276Ile
ENST00000589042.5:c.106022C>T (TTN) MANE Select ENSP00000467141.1:p.Thr35341Ile
ENST00000591111.5:c.101099C>T (TTN) ENSP00000465570.1:p.Thr33700Ile
ENST00000615779.4:c.101099C>T (TTN) ENSP00000483597.1:p.Thr33700Ile
NM_001256850.1:c.101099C>T (TTN) NP_001243779.1:p.Thr33700Ile
NM_001267550.2:c.106022C>T (TTN) MANE Select NP_001254479.2:p.Thr35341Ile
NM_003319.4:c.78827C>T (TTN) NP_003310.4:p.Thr26276Ile
NM_133378.4:c.98318C>T (TTN) NP_596869.4:p.Thr32773Ile
NM_133432.3:c.79202C>T (TTN) NP_597676.3:p.Thr26401Ile
NM_133437.4:c.79403C>T (TTN) NP_597681.4:p.Thr26468Ile
NR_038271.1:n.446+6957G>A (TTN-AS1)
NR_038272.1:n.220-5139G>A (TTN-AS1)
XM_011511729.1:c.105119C>T (TTN) XP_011510031.1:p.Thr35040Ile
XM_011511730.1:c.79013C>T (TTN) XP_011510032.1:p.Thr26338Ile
XM_011511731.1:c.78872C>T (TTN) XP_011510033.1:p.Thr26291Ile
XM_017004819.1:c.104915C>T (TTN) XP_016860308.1:p.Thr34972Ile
XM_017004820.1:c.100313C>T (TTN) XP_016860309.1:p.Thr33438Ile
XM_017004821.1:c.100310C>T (TTN) XP_016860310.1:p.Thr33437Ile
XM_017004822.1:c.97352C>T (TTN) XP_016860311.1:p.Thr32451Ile
XM_017004823.1:c.78968C>T (TTN) XP_016860312.1:p.Thr26323Ile
XM_024453094.1:c.100463C>T (TTN) XP_024308862.1:p.Thr33488Ile
XM_024453095.1:c.100460C>T (TTN) XP_024308863.1:p.Thr33487Ile
XM_024453096.1:c.99893C>T (TTN) XP_024308864.1:p.Thr33298Ile
XM_024453097.1:c.97235C>T (TTN) XP_024308865.1:p.Thr32412Ile
XM_024453098.1:c.97154C>T (TTN) XP_024308866.1:p.Thr32385Ile
XM_024453099.1:c.78917C>T (TTN) XP_024308867.1:p.Thr26306Ile
XM_024453100.1:c.68771C>T (TTN) XP_024308868.1:p.Thr22924Ile