Canonical Allele Identifier: CA349406092

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530291T>A , CM000664.2:g.178530291T>A GRCh38
NC_000002.11:g.179395018T>A , CM000664.1:g.179395018T>A GRCh37
NC_000002.10:g.179103264T>A NCBI36
NG_011618.3:g.305512A>T , LRG_391:g.305512A>T
NG_051363.1:g.12465T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98620A>T (TTN) ENSP00000343764.6:p.Lys32874Ter
ENST00000342175.11:c.79705A>T (TTN) ENSP00000340554.6:p.Lys26569Ter
ENST00000359218.10:c.79504A>T (TTN) ENSP00000352154.5:p.Lys26502Ter
ENST00000342175.10:c.79705A>T (TTN) ENSP00000340554.6:p.Lys26569Ter
ENST00000342992.10:c.98620A>T (TTN) ENSP00000343764.6:p.Lys32874Ter
ENST00000359218.9:c.79504A>T (TTN) ENSP00000352154.5:p.Lys26502Ter
ENST00000460472.6:c.79129A>T (TTN) ENSP00000434586.1:p.Lys26377Ter
ENST00000589042.5:c.106324A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35442Ter
ENST00000591111.5:c.101401A>T (TTN) ENSP00000465570.1:p.Lys33801Ter
ENST00000615779.4:c.101401A>T (TTN) ENSP00000483597.1:p.Lys33801Ter
NM_001256850.1:c.101401A>T (TTN) NP_001243779.1:p.Lys33801Ter
NM_001267550.2:c.106324A>T (TTN) MANE Select NP_001254479.2:p.Lys35442Ter
NM_003319.4:c.79129A>T (TTN) NP_003310.4:p.Lys26377Ter
NM_133378.4:c.98620A>T (TTN) NP_596869.4:p.Lys32874Ter
NM_133432.3:c.79504A>T (TTN) NP_597676.3:p.Lys26502Ter
NM_133437.4:c.79705A>T (TTN) NP_597681.4:p.Lys26569Ter
NR_038271.1:n.446+6655T>A (TTN-AS1)
NR_038272.1:n.220-5441T>A (TTN-AS1)
XM_011511729.1:c.105421A>T (TTN) XP_011510031.1:p.Lys35141Ter
XM_011511730.1:c.79315A>T (TTN) XP_011510032.1:p.Lys26439Ter
XM_011511731.1:c.79174A>T (TTN) XP_011510033.1:p.Lys26392Ter
XM_017004819.1:c.105217A>T (TTN) XP_016860308.1:p.Lys35073Ter
XM_017004820.1:c.100615A>T (TTN) XP_016860309.1:p.Lys33539Ter
XM_017004821.1:c.100612A>T (TTN) XP_016860310.1:p.Lys33538Ter
XM_017004822.1:c.97654A>T (TTN) XP_016860311.1:p.Lys32552Ter
XM_017004823.1:c.79270A>T (TTN) XP_016860312.1:p.Lys26424Ter
XM_024453094.1:c.100765A>T (TTN) XP_024308862.1:p.Lys33589Ter
XM_024453095.1:c.100762A>T (TTN) XP_024308863.1:p.Lys33588Ter
XM_024453096.1:c.100195A>T (TTN) XP_024308864.1:p.Lys33399Ter
XM_024453097.1:c.97537A>T (TTN) XP_024308865.1:p.Lys32513Ter
XM_024453098.1:c.97456A>T (TTN) XP_024308866.1:p.Lys32486Ter
XM_024453099.1:c.79219A>T (TTN) XP_024308867.1:p.Lys26407Ter
XM_024453100.1:c.69073A>T (TTN) XP_024308868.1:p.Lys23025Ter