Canonical Allele Identifier: CA349398633

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527127G>A , CM000664.2:g.178527127G>A GRCh38
NC_000002.11:g.179391854G>A , CM000664.1:g.179391854G>A GRCh37
NC_000002.10:g.179100100G>A NCBI36
NG_011618.3:g.308676C>T , LRG_391:g.308676C>T
NG_051363.1:g.9301G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100157C>T (TTN) ENSP00000343764.6:p.Thr33386Ile
ENST00000342175.11:c.81242C>T (TTN) ENSP00000340554.6:p.Thr27081Ile
ENST00000359218.10:c.81041C>T (TTN) ENSP00000352154.5:p.Thr27014Ile
ENST00000342175.10:c.81242C>T (TTN) ENSP00000340554.6:p.Thr27081Ile
ENST00000342992.10:c.100157C>T (TTN) ENSP00000343764.6:p.Thr33386Ile
ENST00000359218.9:c.81041C>T (TTN) ENSP00000352154.5:p.Thr27014Ile
ENST00000460472.6:c.80666C>T (TTN) ENSP00000434586.1:p.Thr26889Ile
ENST00000589042.5:c.107861C>T (TTN) MANE Select ENSP00000467141.1:p.Thr35954Ile
ENST00000591111.5:c.102938C>T (TTN) ENSP00000465570.1:p.Thr34313Ile
ENST00000615779.4:c.102938C>T (TTN) ENSP00000483597.1:p.Thr34313Ile
NM_001256850.1:c.102938C>T (TTN) NP_001243779.1:p.Thr34313Ile
NM_001267550.2:c.107861C>T (TTN) MANE Select NP_001254479.2:p.Thr35954Ile
NM_003319.4:c.80666C>T (TTN) NP_003310.4:p.Thr26889Ile
NM_133378.4:c.100157C>T (TTN) NP_596869.4:p.Thr33386Ile
NM_133432.3:c.81041C>T (TTN) NP_597676.3:p.Thr27014Ile
NM_133437.4:c.81242C>T (TTN) NP_597681.4:p.Thr27081Ile
NR_038271.1:n.446+3491G>A (TTN-AS1)
NR_038272.1:n.219+3491G>A (TTN-AS1)
XM_011511729.1:c.106958C>T (TTN) XP_011510031.1:p.Thr35653Ile
XM_011511730.1:c.80852C>T (TTN) XP_011510032.1:p.Thr26951Ile
XM_011511731.1:c.80711C>T (TTN) XP_011510033.1:p.Thr26904Ile
XM_017004819.1:c.106754C>T (TTN) XP_016860308.1:p.Thr35585Ile
XM_017004820.1:c.102152C>T (TTN) XP_016860309.1:p.Thr34051Ile
XM_017004821.1:c.102149C>T (TTN) XP_016860310.1:p.Thr34050Ile
XM_017004822.1:c.99191C>T (TTN) XP_016860311.1:p.Thr33064Ile
XM_017004823.1:c.80807C>T (TTN) XP_016860312.1:p.Thr26936Ile
XM_024453094.1:c.102302C>T (TTN) XP_024308862.1:p.Thr34101Ile
XM_024453095.1:c.102299C>T (TTN) XP_024308863.1:p.Thr34100Ile
XM_024453096.1:c.101732C>T (TTN) XP_024308864.1:p.Thr33911Ile
XM_024453097.1:c.99074C>T (TTN) XP_024308865.1:p.Thr33025Ile
XM_024453098.1:c.98993C>T (TTN) XP_024308866.1:p.Thr32998Ile
XM_024453099.1:c.80756C>T (TTN) XP_024308867.1:p.Thr26919Ile
XM_024453100.1:c.70610C>T (TTN) XP_024308868.1:p.Thr23537Ile