Canonical Allele Identifier: CA349427891

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537617T>G , CM000664.2:g.178537617T>G GRCh38
NC_000002.11:g.179402344T>G , CM000664.1:g.179402344T>G GRCh37
NC_000002.10:g.179110590T>G NCBI36
NG_011618.3:g.298186A>C , LRG_391:g.298186A>C
NG_051363.1:g.19791T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91886A>C (TTN) ENSP00000343764.6:p.His30629Pro
ENST00000342175.11:c.72971A>C (TTN) ENSP00000340554.6:p.His24324Pro
ENST00000359218.10:c.72770A>C (TTN) ENSP00000352154.5:p.His24257Pro
ENST00000342175.10:c.72971A>C (TTN) ENSP00000340554.6:p.His24324Pro
ENST00000342992.10:c.91886A>C (TTN) ENSP00000343764.6:p.His30629Pro
ENST00000359218.9:c.72770A>C (TTN) ENSP00000352154.5:p.His24257Pro
ENST00000460472.6:c.72395A>C (TTN) ENSP00000434586.1:p.His24132Pro
ENST00000589042.5:c.99590A>C (TTN) MANE Select ENSP00000467141.1:p.His33197Pro
ENST00000591111.5:c.94667A>C (TTN) ENSP00000465570.1:p.His31556Pro
ENST00000615779.4:c.94667A>C (TTN) ENSP00000483597.1:p.His31556Pro
NM_001256850.1:c.94667A>C (TTN) NP_001243779.1:p.His31556Pro
NM_001267550.2:c.99590A>C (TTN) MANE Select NP_001254479.2:p.His33197Pro
NM_003319.4:c.72395A>C (TTN) NP_003310.4:p.His24132Pro
NM_133378.4:c.91886A>C (TTN) NP_596869.4:p.His30629Pro
NM_133432.3:c.72770A>C (TTN) NP_597676.3:p.His24257Pro
NM_133437.4:c.72971A>C (TTN) NP_597681.4:p.His24324Pro
NR_038271.1:n.446+13981T>G (TTN-AS1)
NR_038272.1:n.573T>G (TTN-AS1)
XM_011511729.1:c.98687A>C (TTN) XP_011510031.1:p.His32896Pro
XM_011511730.1:c.72581A>C (TTN) XP_011510032.1:p.His24194Pro
XM_011511731.1:c.72440A>C (TTN) XP_011510033.1:p.His24147Pro
XM_017004819.1:c.98483A>C (TTN) XP_016860308.1:p.His32828Pro
XM_017004820.1:c.93881A>C (TTN) XP_016860309.1:p.His31294Pro
XM_017004821.1:c.93878A>C (TTN) XP_016860310.1:p.His31293Pro
XM_017004822.1:c.90920A>C (TTN) XP_016860311.1:p.His30307Pro
XM_017004823.1:c.72536A>C (TTN) XP_016860312.1:p.His24179Pro
XM_024453094.1:c.94031A>C (TTN) XP_024308862.1:p.His31344Pro
XM_024453095.1:c.94028A>C (TTN) XP_024308863.1:p.His31343Pro
XM_024453096.1:c.93461A>C (TTN) XP_024308864.1:p.His31154Pro
XM_024453097.1:c.90803A>C (TTN) XP_024308865.1:p.His30268Pro
XM_024453098.1:c.90722A>C (TTN) XP_024308866.1:p.His30241Pro
XM_024453099.1:c.72485A>C (TTN) XP_024308867.1:p.His24162Pro
XM_024453100.1:c.62339A>C (TTN) XP_024308868.1:p.His20780Pro