Canonical Allele Identifier: CA349510854

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552470T>A , CM000664.2:g.178552470T>A GRCh38
NC_000002.11:g.179417197T>A , CM000664.1:g.179417197T>A GRCh37
NC_000002.10:g.179125443T>A NCBI36
NG_011618.3:g.283333A>T , LRG_391:g.283333A>T
NG_051363.1:g.34644T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82726A>T (TTN) ENSP00000343764.6:p.Arg27576Ter
ENST00000342175.11:c.63811A>T (TTN) ENSP00000340554.6:p.Arg21271Ter
ENST00000359218.10:c.63610A>T (TTN) ENSP00000352154.5:p.Arg21204Ter
ENST00000342175.10:c.63811A>T (TTN) ENSP00000340554.6:p.Arg21271Ter
ENST00000342992.10:c.82726A>T (TTN) ENSP00000343764.6:p.Arg27576Ter
ENST00000359218.9:c.63610A>T (TTN) ENSP00000352154.5:p.Arg21204Ter
ENST00000460472.6:c.63235A>T (TTN) ENSP00000434586.1:p.Arg21079Ter
ENST00000589042.5:c.90430A>T (TTN) MANE Select ENSP00000467141.1:p.Arg30144Ter
ENST00000591111.5:c.85507A>T (TTN) ENSP00000465570.1:p.Arg28503Ter
ENST00000615779.4:c.85507A>T (TTN) ENSP00000483597.1:p.Arg28503Ter
NM_001256850.1:c.85507A>T (TTN) NP_001243779.1:p.Arg28503Ter
NM_001267550.2:c.90430A>T (TTN) MANE Select NP_001254479.2:p.Arg30144Ter
NM_003319.4:c.63235A>T (TTN) NP_003310.4:p.Arg21079Ter
NM_133378.4:c.82726A>T (TTN) NP_596869.4:p.Arg27576Ter
NM_133432.3:c.63610A>T (TTN) NP_597676.3:p.Arg21204Ter
NM_133437.4:c.63811A>T (TTN) NP_597681.4:p.Arg21271Ter
NR_038271.1:n.447-18830T>A (TTN-AS1)
NR_038272.1:n.2043+10109T>A (TTN-AS1)
XM_011511729.1:c.89527A>T (TTN) XP_011510031.1:p.Arg29843Ter
XM_011511730.1:c.63421A>T (TTN) XP_011510032.1:p.Arg21141Ter
XM_011511731.1:c.63280A>T (TTN) XP_011510033.1:p.Arg21094Ter
XM_017004819.1:c.89323A>T (TTN) XP_016860308.1:p.Arg29775Ter
XM_017004820.1:c.84721A>T (TTN) XP_016860309.1:p.Arg28241Ter
XM_017004821.1:c.84718A>T (TTN) XP_016860310.1:p.Arg28240Ter
XM_017004822.1:c.81760A>T (TTN) XP_016860311.1:p.Arg27254Ter
XM_017004823.1:c.63376A>T (TTN) XP_016860312.1:p.Arg21126Ter
XM_024453094.1:c.84871A>T (TTN) XP_024308862.1:p.Arg28291Ter
XM_024453095.1:c.84868A>T (TTN) XP_024308863.1:p.Arg28290Ter
XM_024453096.1:c.84301A>T (TTN) XP_024308864.1:p.Arg28101Ter
XM_024453097.1:c.81643A>T (TTN) XP_024308865.1:p.Arg27215Ter
XM_024453098.1:c.81562A>T (TTN) XP_024308866.1:p.Arg27188Ter
XM_024453099.1:c.63325A>T (TTN) XP_024308867.1:p.Arg21109Ter
XM_024453100.1:c.53179A>T (TTN) XP_024308868.1:p.Arg17727Ter