Canonical Allele Identifier: CA349406991

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530495A>C , CM000664.2:g.178530495A>C GRCh38
NC_000002.11:g.179395222A>C , CM000664.1:g.179395222A>C GRCh37
NC_000002.10:g.179103468A>C NCBI36
NG_011618.3:g.305308T>G , LRG_391:g.305308T>G
NG_051363.1:g.12669A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98416T>G (TTN) ENSP00000343764.6:p.Phe32806Val
ENST00000342175.11:c.79501T>G (TTN) ENSP00000340554.6:p.Phe26501Val
ENST00000359218.10:c.79300T>G (TTN) ENSP00000352154.5:p.Phe26434Val
ENST00000342175.10:c.79501T>G (TTN) ENSP00000340554.6:p.Phe26501Val
ENST00000342992.10:c.98416T>G (TTN) ENSP00000343764.6:p.Phe32806Val
ENST00000359218.9:c.79300T>G (TTN) ENSP00000352154.5:p.Phe26434Val
ENST00000460472.6:c.78925T>G (TTN) ENSP00000434586.1:p.Phe26309Val
ENST00000589042.5:c.106120T>G (TTN) MANE Select ENSP00000467141.1:p.Phe35374Val
ENST00000591111.5:c.101197T>G (TTN) ENSP00000465570.1:p.Phe33733Val
ENST00000615779.4:c.101197T>G (TTN) ENSP00000483597.1:p.Phe33733Val
NM_001256850.1:c.101197T>G (TTN) NP_001243779.1:p.Phe33733Val
NM_001267550.2:c.106120T>G (TTN) MANE Select NP_001254479.2:p.Phe35374Val
NM_003319.4:c.78925T>G (TTN) NP_003310.4:p.Phe26309Val
NM_133378.4:c.98416T>G (TTN) NP_596869.4:p.Phe32806Val
NM_133432.3:c.79300T>G (TTN) NP_597676.3:p.Phe26434Val
NM_133437.4:c.79501T>G (TTN) NP_597681.4:p.Phe26501Val
NR_038271.1:n.446+6859A>C (TTN-AS1)
NR_038272.1:n.220-5237A>C (TTN-AS1)
XM_011511729.1:c.105217T>G (TTN) XP_011510031.1:p.Phe35073Val
XM_011511730.1:c.79111T>G (TTN) XP_011510032.1:p.Phe26371Val
XM_011511731.1:c.78970T>G (TTN) XP_011510033.1:p.Phe26324Val
XM_017004819.1:c.105013T>G (TTN) XP_016860308.1:p.Phe35005Val
XM_017004820.1:c.100411T>G (TTN) XP_016860309.1:p.Phe33471Val
XM_017004821.1:c.100408T>G (TTN) XP_016860310.1:p.Phe33470Val
XM_017004822.1:c.97450T>G (TTN) XP_016860311.1:p.Phe32484Val
XM_017004823.1:c.79066T>G (TTN) XP_016860312.1:p.Phe26356Val
XM_024453094.1:c.100561T>G (TTN) XP_024308862.1:p.Phe33521Val
XM_024453095.1:c.100558T>G (TTN) XP_024308863.1:p.Phe33520Val
XM_024453096.1:c.99991T>G (TTN) XP_024308864.1:p.Phe33331Val
XM_024453097.1:c.97333T>G (TTN) XP_024308865.1:p.Phe32445Val
XM_024453098.1:c.97252T>G (TTN) XP_024308866.1:p.Phe32418Val
XM_024453099.1:c.79015T>G (TTN) XP_024308867.1:p.Phe26339Val
XM_024453100.1:c.68869T>G (TTN) XP_024308868.1:p.Phe22957Val