Canonical Allele Identifier: CA349411910

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96656A>T (TTN) ENSP00000343764.6:p.Lys32219Ile
ENST00000342175.11:c.77741A>T (TTN) ENSP00000340554.6:p.Lys25914Ile
ENST00000359218.10:c.77540A>T (TTN) ENSP00000352154.5:p.Lys25847Ile
ENST00000342175.10:c.77741A>T (TTN) ENSP00000340554.6:p.Lys25914Ile
ENST00000342992.10:c.96656A>T (TTN) ENSP00000343764.6:p.Lys32219Ile
ENST00000359218.9:c.77540A>T (TTN) ENSP00000352154.5:p.Lys25847Ile
ENST00000460472.6:c.77165A>T (TTN) ENSP00000434586.1:p.Lys25722Ile
ENST00000589042.5:c.104360A>T (TTN) MANE Select ENSP00000467141.1:p.Lys34787Ile
ENST00000591111.5:c.99437A>T (TTN) ENSP00000465570.1:p.Lys33146Ile
ENST00000615779.4:c.99437A>T (TTN) ENSP00000483597.1:p.Lys33146Ile
NM_001256850.1:c.99437A>T (TTN) NP_001243779.1:p.Lys33146Ile
NM_001267550.2:c.104360A>T (TTN) MANE Select NP_001254479.2:p.Lys34787Ile
NM_003319.4:c.77165A>T (TTN) NP_003310.4:p.Lys25722Ile
NM_133378.4:c.96656A>T (TTN) NP_596869.4:p.Lys32219Ile
NM_133432.3:c.77540A>T (TTN) NP_597676.3:p.Lys25847Ile
NM_133437.4:c.77741A>T (TTN) NP_597681.4:p.Lys25914Ile
NR_038271.1:n.446+8619T>A (TTN-AS1)
NR_038272.1:n.220-3477T>A (TTN-AS1)
XM_011511729.1:c.103457A>T (TTN) XP_011510031.1:p.Lys34486Ile
XM_011511730.1:c.77351A>T (TTN) XP_011510032.1:p.Lys25784Ile
XM_011511731.1:c.77210A>T (TTN) XP_011510033.1:p.Lys25737Ile
XM_017004819.1:c.103253A>T (TTN) XP_016860308.1:p.Lys34418Ile
XM_017004820.1:c.98651A>T (TTN) XP_016860309.1:p.Lys32884Ile
XM_017004821.1:c.98648A>T (TTN) XP_016860310.1:p.Lys32883Ile
XM_017004822.1:c.95690A>T (TTN) XP_016860311.1:p.Lys31897Ile
XM_017004823.1:c.77306A>T (TTN) XP_016860312.1:p.Lys25769Ile
XM_024453094.1:c.98801A>T (TTN) XP_024308862.1:p.Lys32934Ile
XM_024453095.1:c.98798A>T (TTN) XP_024308863.1:p.Lys32933Ile
XM_024453096.1:c.98231A>T (TTN) XP_024308864.1:p.Lys32744Ile
XM_024453097.1:c.95573A>T (TTN) XP_024308865.1:p.Lys31858Ile
XM_024453098.1:c.95492A>T (TTN) XP_024308866.1:p.Lys31831Ile
XM_024453099.1:c.77255A>T (TTN) XP_024308867.1:p.Lys25752Ile
XM_024453100.1:c.67109A>T (TTN) XP_024308868.1:p.Lys22370Ile