Canonical Allele Identifier: CA349407204

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530594T>C , CM000664.2:g.178530594T>C GRCh38
NC_000002.11:g.179395321T>C , CM000664.1:g.179395321T>C GRCh37
NC_000002.10:g.179103567T>C NCBI36
NG_011618.3:g.305209A>G , LRG_391:g.305209A>G
NG_051363.1:g.12768T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98317A>G (TTN) ENSP00000343764.6:p.Thr32773Ala
ENST00000342175.11:c.79402A>G (TTN) ENSP00000340554.6:p.Thr26468Ala
ENST00000359218.10:c.79201A>G (TTN) ENSP00000352154.5:p.Thr26401Ala
ENST00000342175.10:c.79402A>G (TTN) ENSP00000340554.6:p.Thr26468Ala
ENST00000342992.10:c.98317A>G (TTN) ENSP00000343764.6:p.Thr32773Ala
ENST00000359218.9:c.79201A>G (TTN) ENSP00000352154.5:p.Thr26401Ala
ENST00000460472.6:c.78826A>G (TTN) ENSP00000434586.1:p.Thr26276Ala
ENST00000589042.5:c.106021A>G (TTN) MANE Select ENSP00000467141.1:p.Thr35341Ala
ENST00000591111.5:c.101098A>G (TTN) ENSP00000465570.1:p.Thr33700Ala
ENST00000615779.4:c.101098A>G (TTN) ENSP00000483597.1:p.Thr33700Ala
NM_001256850.1:c.101098A>G (TTN) NP_001243779.1:p.Thr33700Ala
NM_001267550.2:c.106021A>G (TTN) MANE Select NP_001254479.2:p.Thr35341Ala
NM_003319.4:c.78826A>G (TTN) NP_003310.4:p.Thr26276Ala
NM_133378.4:c.98317A>G (TTN) NP_596869.4:p.Thr32773Ala
NM_133432.3:c.79201A>G (TTN) NP_597676.3:p.Thr26401Ala
NM_133437.4:c.79402A>G (TTN) NP_597681.4:p.Thr26468Ala
NR_038271.1:n.446+6958T>C (TTN-AS1)
NR_038272.1:n.220-5138T>C (TTN-AS1)
XM_011511729.1:c.105118A>G (TTN) XP_011510031.1:p.Thr35040Ala
XM_011511730.1:c.79012A>G (TTN) XP_011510032.1:p.Thr26338Ala
XM_011511731.1:c.78871A>G (TTN) XP_011510033.1:p.Thr26291Ala
XM_017004819.1:c.104914A>G (TTN) XP_016860308.1:p.Thr34972Ala
XM_017004820.1:c.100312A>G (TTN) XP_016860309.1:p.Thr33438Ala
XM_017004821.1:c.100309A>G (TTN) XP_016860310.1:p.Thr33437Ala
XM_017004822.1:c.97351A>G (TTN) XP_016860311.1:p.Thr32451Ala
XM_017004823.1:c.78967A>G (TTN) XP_016860312.1:p.Thr26323Ala
XM_024453094.1:c.100462A>G (TTN) XP_024308862.1:p.Thr33488Ala
XM_024453095.1:c.100459A>G (TTN) XP_024308863.1:p.Thr33487Ala
XM_024453096.1:c.99892A>G (TTN) XP_024308864.1:p.Thr33298Ala
XM_024453097.1:c.97234A>G (TTN) XP_024308865.1:p.Thr32412Ala
XM_024453098.1:c.97153A>G (TTN) XP_024308866.1:p.Thr32385Ala
XM_024453099.1:c.78916A>G (TTN) XP_024308867.1:p.Thr26306Ala
XM_024453100.1:c.68770A>G (TTN) XP_024308868.1:p.Thr22924Ala