Canonical Allele Identifier: CA349411717

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532170A>C , CM000664.2:g.178532170A>C GRCh38
NC_000002.11:g.179396897A>C , CM000664.1:g.179396897A>C GRCh37
NC_000002.10:g.179105143A>C NCBI36
NG_011618.3:g.303633T>G , LRG_391:g.303633T>G
NG_051363.1:g.14344A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96741T>G (TTN) ENSP00000343764.6:p.Ile32247Met
ENST00000342175.11:c.77826T>G (TTN) ENSP00000340554.6:p.Ile25942Met
ENST00000359218.10:c.77625T>G (TTN) ENSP00000352154.5:p.Ile25875Met
ENST00000342175.10:c.77826T>G (TTN) ENSP00000340554.6:p.Ile25942Met
ENST00000342992.10:c.96741T>G (TTN) ENSP00000343764.6:p.Ile32247Met
ENST00000359218.9:c.77625T>G (TTN) ENSP00000352154.5:p.Ile25875Met
ENST00000460472.6:c.77250T>G (TTN) ENSP00000434586.1:p.Ile25750Met
ENST00000589042.5:c.104445T>G (TTN) MANE Select ENSP00000467141.1:p.Ile34815Met
ENST00000591111.5:c.99522T>G (TTN) ENSP00000465570.1:p.Ile33174Met
ENST00000615779.4:c.99522T>G (TTN) ENSP00000483597.1:p.Ile33174Met
NM_001256850.1:c.99522T>G (TTN) NP_001243779.1:p.Ile33174Met
NM_001267550.2:c.104445T>G (TTN) MANE Select NP_001254479.2:p.Ile34815Met
NM_003319.4:c.77250T>G (TTN) NP_003310.4:p.Ile25750Met
NM_133378.4:c.96741T>G (TTN) NP_596869.4:p.Ile32247Met
NM_133432.3:c.77625T>G (TTN) NP_597676.3:p.Ile25875Met
NM_133437.4:c.77826T>G (TTN) NP_597681.4:p.Ile25942Met
NR_038271.1:n.446+8534A>C (TTN-AS1)
NR_038272.1:n.220-3562A>C (TTN-AS1)
XM_011511729.1:c.103542T>G (TTN) XP_011510031.1:p.Ile34514Met
XM_011511730.1:c.77436T>G (TTN) XP_011510032.1:p.Ile25812Met
XM_011511731.1:c.77295T>G (TTN) XP_011510033.1:p.Ile25765Met
XM_017004819.1:c.103338T>G (TTN) XP_016860308.1:p.Ile34446Met
XM_017004820.1:c.98736T>G (TTN) XP_016860309.1:p.Ile32912Met
XM_017004821.1:c.98733T>G (TTN) XP_016860310.1:p.Ile32911Met
XM_017004822.1:c.95775T>G (TTN) XP_016860311.1:p.Ile31925Met
XM_017004823.1:c.77391T>G (TTN) XP_016860312.1:p.Ile25797Met
XM_024453094.1:c.98886T>G (TTN) XP_024308862.1:p.Ile32962Met
XM_024453095.1:c.98883T>G (TTN) XP_024308863.1:p.Ile32961Met
XM_024453096.1:c.98316T>G (TTN) XP_024308864.1:p.Ile32772Met
XM_024453097.1:c.95658T>G (TTN) XP_024308865.1:p.Ile31886Met
XM_024453098.1:c.95577T>G (TTN) XP_024308866.1:p.Ile31859Met
XM_024453099.1:c.77340T>G (TTN) XP_024308867.1:p.Ile25780Met
XM_024453100.1:c.67194T>G (TTN) XP_024308868.1:p.Ile22398Met