Canonical Allele Identifier: CA349510802

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552469C>A , CM000664.2:g.178552469C>A GRCh38
NC_000002.11:g.179417196C>A , CM000664.1:g.179417196C>A GRCh37
NC_000002.10:g.179125442C>A NCBI36
NG_011618.3:g.283334G>T , LRG_391:g.283334G>T
NG_051363.1:g.34643C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82727G>T (TTN) ENSP00000343764.6:p.Arg27576Ile
ENST00000342175.11:c.63812G>T (TTN) ENSP00000340554.6:p.Arg21271Ile
ENST00000359218.10:c.63611G>T (TTN) ENSP00000352154.5:p.Arg21204Ile
ENST00000342175.10:c.63812G>T (TTN) ENSP00000340554.6:p.Arg21271Ile
ENST00000342992.10:c.82727G>T (TTN) ENSP00000343764.6:p.Arg27576Ile
ENST00000359218.9:c.63611G>T (TTN) ENSP00000352154.5:p.Arg21204Ile
ENST00000460472.6:c.63236G>T (TTN) ENSP00000434586.1:p.Arg21079Ile
ENST00000589042.5:c.90431G>T (TTN) MANE Select ENSP00000467141.1:p.Arg30144Ile
ENST00000591111.5:c.85508G>T (TTN) ENSP00000465570.1:p.Arg28503Ile
ENST00000615779.4:c.85508G>T (TTN) ENSP00000483597.1:p.Arg28503Ile
NM_001256850.1:c.85508G>T (TTN) NP_001243779.1:p.Arg28503Ile
NM_001267550.2:c.90431G>T (TTN) MANE Select NP_001254479.2:p.Arg30144Ile
NM_003319.4:c.63236G>T (TTN) NP_003310.4:p.Arg21079Ile
NM_133378.4:c.82727G>T (TTN) NP_596869.4:p.Arg27576Ile
NM_133432.3:c.63611G>T (TTN) NP_597676.3:p.Arg21204Ile
NM_133437.4:c.63812G>T (TTN) NP_597681.4:p.Arg21271Ile
NR_038271.1:n.447-18831C>A (TTN-AS1)
NR_038272.1:n.2043+10108C>A (TTN-AS1)
XM_011511729.1:c.89528G>T (TTN) XP_011510031.1:p.Arg29843Ile
XM_011511730.1:c.63422G>T (TTN) XP_011510032.1:p.Arg21141Ile
XM_011511731.1:c.63281G>T (TTN) XP_011510033.1:p.Arg21094Ile
XM_017004819.1:c.89324G>T (TTN) XP_016860308.1:p.Arg29775Ile
XM_017004820.1:c.84722G>T (TTN) XP_016860309.1:p.Arg28241Ile
XM_017004821.1:c.84719G>T (TTN) XP_016860310.1:p.Arg28240Ile
XM_017004822.1:c.81761G>T (TTN) XP_016860311.1:p.Arg27254Ile
XM_017004823.1:c.63377G>T (TTN) XP_016860312.1:p.Arg21126Ile
XM_024453094.1:c.84872G>T (TTN) XP_024308862.1:p.Arg28291Ile
XM_024453095.1:c.84869G>T (TTN) XP_024308863.1:p.Arg28290Ile
XM_024453096.1:c.84302G>T (TTN) XP_024308864.1:p.Arg28101Ile
XM_024453097.1:c.81644G>T (TTN) XP_024308865.1:p.Arg27215Ile
XM_024453098.1:c.81563G>T (TTN) XP_024308866.1:p.Arg27188Ile
XM_024453099.1:c.63326G>T (TTN) XP_024308867.1:p.Arg21109Ile
XM_024453100.1:c.53180G>T (TTN) XP_024308868.1:p.Arg17727Ile