Canonical Allele Identifier: CA349411912

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532255T>G , CM000664.2:g.178532255T>G GRCh38
NC_000002.11:g.179396982T>G , CM000664.1:g.179396982T>G GRCh37
NC_000002.10:g.179105228T>G NCBI36
NG_011618.3:g.303548A>C , LRG_391:g.303548A>C
NG_051363.1:g.14429T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96656A>C (TTN) ENSP00000343764.6:p.Lys32219Thr
ENST00000342175.11:c.77741A>C (TTN) ENSP00000340554.6:p.Lys25914Thr
ENST00000359218.10:c.77540A>C (TTN) ENSP00000352154.5:p.Lys25847Thr
ENST00000342175.10:c.77741A>C (TTN) ENSP00000340554.6:p.Lys25914Thr
ENST00000342992.10:c.96656A>C (TTN) ENSP00000343764.6:p.Lys32219Thr
ENST00000359218.9:c.77540A>C (TTN) ENSP00000352154.5:p.Lys25847Thr
ENST00000460472.6:c.77165A>C (TTN) ENSP00000434586.1:p.Lys25722Thr
ENST00000589042.5:c.104360A>C (TTN) MANE Select ENSP00000467141.1:p.Lys34787Thr
ENST00000591111.5:c.99437A>C (TTN) ENSP00000465570.1:p.Lys33146Thr
ENST00000615779.4:c.99437A>C (TTN) ENSP00000483597.1:p.Lys33146Thr
NM_001256850.1:c.99437A>C (TTN) NP_001243779.1:p.Lys33146Thr
NM_001267550.2:c.104360A>C (TTN) MANE Select NP_001254479.2:p.Lys34787Thr
NM_003319.4:c.77165A>C (TTN) NP_003310.4:p.Lys25722Thr
NM_133378.4:c.96656A>C (TTN) NP_596869.4:p.Lys32219Thr
NM_133432.3:c.77540A>C (TTN) NP_597676.3:p.Lys25847Thr
NM_133437.4:c.77741A>C (TTN) NP_597681.4:p.Lys25914Thr
NR_038271.1:n.446+8619T>G (TTN-AS1)
NR_038272.1:n.220-3477T>G (TTN-AS1)
XM_011511729.1:c.103457A>C (TTN) XP_011510031.1:p.Lys34486Thr
XM_011511730.1:c.77351A>C (TTN) XP_011510032.1:p.Lys25784Thr
XM_011511731.1:c.77210A>C (TTN) XP_011510033.1:p.Lys25737Thr
XM_017004819.1:c.103253A>C (TTN) XP_016860308.1:p.Lys34418Thr
XM_017004820.1:c.98651A>C (TTN) XP_016860309.1:p.Lys32884Thr
XM_017004821.1:c.98648A>C (TTN) XP_016860310.1:p.Lys32883Thr
XM_017004822.1:c.95690A>C (TTN) XP_016860311.1:p.Lys31897Thr
XM_017004823.1:c.77306A>C (TTN) XP_016860312.1:p.Lys25769Thr
XM_024453094.1:c.98801A>C (TTN) XP_024308862.1:p.Lys32934Thr
XM_024453095.1:c.98798A>C (TTN) XP_024308863.1:p.Lys32933Thr
XM_024453096.1:c.98231A>C (TTN) XP_024308864.1:p.Lys32744Thr
XM_024453097.1:c.95573A>C (TTN) XP_024308865.1:p.Lys31858Thr
XM_024453098.1:c.95492A>C (TTN) XP_024308866.1:p.Lys31831Thr
XM_024453099.1:c.77255A>C (TTN) XP_024308867.1:p.Lys25752Thr
XM_024453100.1:c.67109A>C (TTN) XP_024308868.1:p.Lys22370Thr