Canonical Allele Identifier: CA349414228
Community Standard Title: NM_001267550.2(TTN):c.103457T>C (p.Ile34486Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533158A>G , CM000664.2:g.178533158A>G GRCh38
NC_000002.11:g.179397885A>G , CM000664.1:g.179397885A>G GRCh37
NC_000002.10:g.179106131A>G NCBI36
NG_011618.3:g.302645T>C , LRG_391:g.302645T>C
NG_051363.1:g.15332A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103457T>C (TTN) MANE Select NP_001254479.2:p.Ile34486Thr
ENST00000589042.5:c.103457T>C (TTN) MANE Select ENSP00000467141.1:p.Ile34486Thr
NM_001256850.1:c.98534T>C (TTN) NP_001243779.1:p.Ile32845Thr
NM_003319.4:c.76262T>C (TTN) NP_003310.4:p.Ile25421Thr
NM_133378.4:c.95753T>C (TTN) NP_596869.4:p.Ile31918Thr
NM_133432.3:c.76637T>C (TTN) NP_597676.3:p.Ile25546Thr
NM_133437.4:c.76838T>C (TTN) NP_597681.4:p.Ile25613Thr
NR_038271.1:n.446+9522A>G (TTN-AS1)
NR_038272.1:n.220-2574A>G (TTN-AS1)
ENST00000342175.10:c.76838T>C (TTN) ENSP00000340554.6:p.Ile25613Thr
ENST00000342175.11:c.76838T>C (TTN) ENSP00000340554.6:p.Ile25613Thr
ENST00000342992.10:c.95753T>C (TTN) ENSP00000343764.6:p.Ile31918Thr
ENST00000342992.11:c.95753T>C (TTN) ENSP00000343764.6:p.Ile31918Thr
ENST00000359218.10:c.76637T>C (TTN) ENSP00000352154.5:p.Ile25546Thr
ENST00000359218.9:c.76637T>C (TTN) ENSP00000352154.5:p.Ile25546Thr
ENST00000460472.6:c.76262T>C (TTN) ENSP00000434586.1:p.Ile25421Thr
ENST00000591111.5:c.98534T>C (TTN) ENSP00000465570.1:p.Ile32845Thr
ENST00000615779.4:c.98534T>C (TTN) ENSP00000483597.1:p.Ile32845Thr
XM_011511729.1:c.102554T>C (TTN) XP_011510031.1:p.Ile34185Thr
XM_011511730.1:c.76448T>C (TTN) XP_011510032.1:p.Ile25483Thr
XM_011511731.1:c.76307T>C (TTN) XP_011510033.1:p.Ile25436Thr
XM_017004819.1:c.102350T>C (TTN) XP_016860308.1:p.Ile34117Thr
XM_017004820.1:c.97748T>C (TTN) XP_016860309.1:p.Ile32583Thr
XM_017004821.1:c.97745T>C (TTN) XP_016860310.1:p.Ile32582Thr
XM_017004822.1:c.94787T>C (TTN) XP_016860311.1:p.Ile31596Thr
XM_017004823.1:c.76403T>C (TTN) XP_016860312.1:p.Ile25468Thr
XM_024453094.1:c.97898T>C (TTN) XP_024308862.1:p.Ile32633Thr
XM_024453095.1:c.97895T>C (TTN) XP_024308863.1:p.Ile32632Thr
XM_024453096.1:c.97328T>C (TTN) XP_024308864.1:p.Ile32443Thr
XM_024453097.1:c.94670T>C (TTN) XP_024308865.1:p.Ile31557Thr
XM_024453098.1:c.94589T>C (TTN) XP_024308866.1:p.Ile31530Thr
XM_024453099.1:c.76352T>C (TTN) XP_024308867.1:p.Ile25451Thr
XM_024453100.1:c.66206T>C (TTN) XP_024308868.1:p.Ile22069Thr