Canonical Allele Identifier: CA349407250

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530615A>C , CM000664.2:g.178530615A>C GRCh38
NC_000002.11:g.179395342A>C , CM000664.1:g.179395342A>C GRCh37
NC_000002.10:g.179103588A>C NCBI36
NG_011618.3:g.305188T>G , LRG_391:g.305188T>G
NG_051363.1:g.12789A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98296T>G (TTN) ENSP00000343764.6:p.Phe32766Val
ENST00000342175.11:c.79381T>G (TTN) ENSP00000340554.6:p.Phe26461Val
ENST00000359218.10:c.79180T>G (TTN) ENSP00000352154.5:p.Phe26394Val
ENST00000342175.10:c.79381T>G (TTN) ENSP00000340554.6:p.Phe26461Val
ENST00000342992.10:c.98296T>G (TTN) ENSP00000343764.6:p.Phe32766Val
ENST00000359218.9:c.79180T>G (TTN) ENSP00000352154.5:p.Phe26394Val
ENST00000460472.6:c.78805T>G (TTN) ENSP00000434586.1:p.Phe26269Val
ENST00000589042.5:c.106000T>G (TTN) MANE Select ENSP00000467141.1:p.Phe35334Val
ENST00000591111.5:c.101077T>G (TTN) ENSP00000465570.1:p.Phe33693Val
ENST00000615779.4:c.101077T>G (TTN) ENSP00000483597.1:p.Phe33693Val
NM_001256850.1:c.101077T>G (TTN) NP_001243779.1:p.Phe33693Val
NM_001267550.2:c.106000T>G (TTN) MANE Select NP_001254479.2:p.Phe35334Val
NM_003319.4:c.78805T>G (TTN) NP_003310.4:p.Phe26269Val
NM_133378.4:c.98296T>G (TTN) NP_596869.4:p.Phe32766Val
NM_133432.3:c.79180T>G (TTN) NP_597676.3:p.Phe26394Val
NM_133437.4:c.79381T>G (TTN) NP_597681.4:p.Phe26461Val
NR_038271.1:n.446+6979A>C (TTN-AS1)
NR_038272.1:n.220-5117A>C (TTN-AS1)
XM_011511729.1:c.105097T>G (TTN) XP_011510031.1:p.Phe35033Val
XM_011511730.1:c.78991T>G (TTN) XP_011510032.1:p.Phe26331Val
XM_011511731.1:c.78850T>G (TTN) XP_011510033.1:p.Phe26284Val
XM_017004819.1:c.104893T>G (TTN) XP_016860308.1:p.Phe34965Val
XM_017004820.1:c.100291T>G (TTN) XP_016860309.1:p.Phe33431Val
XM_017004821.1:c.100288T>G (TTN) XP_016860310.1:p.Phe33430Val
XM_017004822.1:c.97330T>G (TTN) XP_016860311.1:p.Phe32444Val
XM_017004823.1:c.78946T>G (TTN) XP_016860312.1:p.Phe26316Val
XM_024453094.1:c.100441T>G (TTN) XP_024308862.1:p.Phe33481Val
XM_024453095.1:c.100438T>G (TTN) XP_024308863.1:p.Phe33480Val
XM_024453096.1:c.99871T>G (TTN) XP_024308864.1:p.Phe33291Val
XM_024453097.1:c.97213T>G (TTN) XP_024308865.1:p.Phe32405Val
XM_024453098.1:c.97132T>G (TTN) XP_024308866.1:p.Phe32378Val
XM_024453099.1:c.78895T>G (TTN) XP_024308867.1:p.Phe26299Val
XM_024453100.1:c.68749T>G (TTN) XP_024308868.1:p.Phe22917Val