Canonical Allele Identifier: CA349405280

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530056T>C , CM000664.2:g.178530056T>C GRCh38
NC_000002.11:g.179394783T>C , CM000664.1:g.179394783T>C GRCh37
NC_000002.10:g.179103029T>C NCBI36
NG_011618.3:g.305747A>G , LRG_391:g.305747A>G
NG_051363.1:g.12230T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98731A>G (TTN) ENSP00000343764.6:p.Ile32911Val
ENST00000342175.11:c.79816A>G (TTN) ENSP00000340554.6:p.Ile26606Val
ENST00000359218.10:c.79615A>G (TTN) ENSP00000352154.5:p.Ile26539Val
ENST00000342175.10:c.79816A>G (TTN) ENSP00000340554.6:p.Ile26606Val
ENST00000342992.10:c.98731A>G (TTN) ENSP00000343764.6:p.Ile32911Val
ENST00000359218.9:c.79615A>G (TTN) ENSP00000352154.5:p.Ile26539Val
ENST00000460472.6:c.79240A>G (TTN) ENSP00000434586.1:p.Ile26414Val
ENST00000589042.5:c.106435A>G (TTN) MANE Select ENSP00000467141.1:p.Ile35479Val
ENST00000591111.5:c.101512A>G (TTN) ENSP00000465570.1:p.Ile33838Val
ENST00000615779.4:c.101512A>G (TTN) ENSP00000483597.1:p.Ile33838Val
NM_001256850.1:c.101512A>G (TTN) NP_001243779.1:p.Ile33838Val
NM_001267550.2:c.106435A>G (TTN) MANE Select NP_001254479.2:p.Ile35479Val
NM_003319.4:c.79240A>G (TTN) NP_003310.4:p.Ile26414Val
NM_133378.4:c.98731A>G (TTN) NP_596869.4:p.Ile32911Val
NM_133432.3:c.79615A>G (TTN) NP_597676.3:p.Ile26539Val
NM_133437.4:c.79816A>G (TTN) NP_597681.4:p.Ile26606Val
NR_038271.1:n.446+6420T>C (TTN-AS1)
NR_038272.1:n.220-5676T>C (TTN-AS1)
XM_011511729.1:c.105532A>G (TTN) XP_011510031.1:p.Ile35178Val
XM_011511730.1:c.79426A>G (TTN) XP_011510032.1:p.Ile26476Val
XM_011511731.1:c.79285A>G (TTN) XP_011510033.1:p.Ile26429Val
XM_017004819.1:c.105328A>G (TTN) XP_016860308.1:p.Ile35110Val
XM_017004820.1:c.100726A>G (TTN) XP_016860309.1:p.Ile33576Val
XM_017004821.1:c.100723A>G (TTN) XP_016860310.1:p.Ile33575Val
XM_017004822.1:c.97765A>G (TTN) XP_016860311.1:p.Ile32589Val
XM_017004823.1:c.79381A>G (TTN) XP_016860312.1:p.Ile26461Val
XM_024453094.1:c.100876A>G (TTN) XP_024308862.1:p.Ile33626Val
XM_024453095.1:c.100873A>G (TTN) XP_024308863.1:p.Ile33625Val
XM_024453096.1:c.100306A>G (TTN) XP_024308864.1:p.Ile33436Val
XM_024453097.1:c.97648A>G (TTN) XP_024308865.1:p.Ile32550Val
XM_024453098.1:c.97567A>G (TTN) XP_024308866.1:p.Ile32523Val
XM_024453099.1:c.79330A>G (TTN) XP_024308867.1:p.Ile26444Val
XM_024453100.1:c.69184A>G (TTN) XP_024308868.1:p.Ile23062Val