Canonical Allele Identifier: CA349408261

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530975A>G , CM000664.2:g.178530975A>G GRCh38
NC_000002.11:g.179395702A>G , CM000664.1:g.179395702A>G GRCh37
NC_000002.10:g.179103948A>G NCBI36
NG_011618.3:g.304828T>C , LRG_391:g.304828T>C
NG_051363.1:g.13149A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.97936T>C (TTN) ENSP00000343764.6:p.Phe32646Leu
ENST00000342175.11:c.79021T>C (TTN) ENSP00000340554.6:p.Phe26341Leu
ENST00000359218.10:c.78820T>C (TTN) ENSP00000352154.5:p.Phe26274Leu
ENST00000342175.10:c.79021T>C (TTN) ENSP00000340554.6:p.Phe26341Leu
ENST00000342992.10:c.97936T>C (TTN) ENSP00000343764.6:p.Phe32646Leu
ENST00000359218.9:c.78820T>C (TTN) ENSP00000352154.5:p.Phe26274Leu
ENST00000460472.6:c.78445T>C (TTN) ENSP00000434586.1:p.Phe26149Leu
ENST00000589042.5:c.105640T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35214Leu
ENST00000591111.5:c.100717T>C (TTN) ENSP00000465570.1:p.Phe33573Leu
ENST00000615779.4:c.100717T>C (TTN) ENSP00000483597.1:p.Phe33573Leu
NM_001256850.1:c.100717T>C (TTN) NP_001243779.1:p.Phe33573Leu
NM_001267550.2:c.105640T>C (TTN) MANE Select NP_001254479.2:p.Phe35214Leu
NM_003319.4:c.78445T>C (TTN) NP_003310.4:p.Phe26149Leu
NM_133378.4:c.97936T>C (TTN) NP_596869.4:p.Phe32646Leu
NM_133432.3:c.78820T>C (TTN) NP_597676.3:p.Phe26274Leu
NM_133437.4:c.79021T>C (TTN) NP_597681.4:p.Phe26341Leu
NR_038271.1:n.446+7339A>G (TTN-AS1)
NR_038272.1:n.220-4757A>G (TTN-AS1)
XM_011511729.1:c.104737T>C (TTN) XP_011510031.1:p.Phe34913Leu
XM_011511730.1:c.78631T>C (TTN) XP_011510032.1:p.Phe26211Leu
XM_011511731.1:c.78490T>C (TTN) XP_011510033.1:p.Phe26164Leu
XM_017004819.1:c.104533T>C (TTN) XP_016860308.1:p.Phe34845Leu
XM_017004820.1:c.99931T>C (TTN) XP_016860309.1:p.Phe33311Leu
XM_017004821.1:c.99928T>C (TTN) XP_016860310.1:p.Phe33310Leu
XM_017004822.1:c.96970T>C (TTN) XP_016860311.1:p.Phe32324Leu
XM_017004823.1:c.78586T>C (TTN) XP_016860312.1:p.Phe26196Leu
XM_024453094.1:c.100081T>C (TTN) XP_024308862.1:p.Phe33361Leu
XM_024453095.1:c.100078T>C (TTN) XP_024308863.1:p.Phe33360Leu
XM_024453096.1:c.99511T>C (TTN) XP_024308864.1:p.Phe33171Leu
XM_024453097.1:c.96853T>C (TTN) XP_024308865.1:p.Phe32285Leu
XM_024453098.1:c.96772T>C (TTN) XP_024308866.1:p.Phe32258Leu
XM_024453099.1:c.78535T>C (TTN) XP_024308867.1:p.Phe26179Leu
XM_024453100.1:c.68389T>C (TTN) XP_024308868.1:p.Phe22797Leu