Canonical Allele Identifier: CA349445855

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543273G>T , CM000664.2:g.178543273G>T GRCh38
NC_000002.11:g.179408000G>T , CM000664.1:g.179408000G>T GRCh37
NC_000002.10:g.179116246G>T NCBI36
NG_011618.3:g.292530C>A , LRG_391:g.292530C>A
NG_051363.1:g.25447G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88996C>A (TTN) ENSP00000343764.6:p.Leu29666Ile
ENST00000342175.11:c.70081C>A (TTN) ENSP00000340554.6:p.Leu23361Ile
ENST00000359218.10:c.69880C>A (TTN) ENSP00000352154.5:p.Leu23294Ile
ENST00000342175.10:c.70081C>A (TTN) ENSP00000340554.6:p.Leu23361Ile
ENST00000342992.10:c.88996C>A (TTN) ENSP00000343764.6:p.Leu29666Ile
ENST00000359218.9:c.69880C>A (TTN) ENSP00000352154.5:p.Leu23294Ile
ENST00000460472.6:c.69505C>A (TTN) ENSP00000434586.1:p.Leu23169Ile
ENST00000589042.5:c.96700C>A (TTN) MANE Select ENSP00000467141.1:p.Leu32234Ile
ENST00000591111.5:c.91777C>A (TTN) ENSP00000465570.1:p.Leu30593Ile
ENST00000615779.4:c.91777C>A (TTN) ENSP00000483597.1:p.Leu30593Ile
NM_001256850.1:c.91777C>A (TTN) NP_001243779.1:p.Leu30593Ile
NM_001267550.2:c.96700C>A (TTN) MANE Select NP_001254479.2:p.Leu32234Ile
NM_003319.4:c.69505C>A (TTN) NP_003310.4:p.Leu23169Ile
NM_133378.4:c.88996C>A (TTN) NP_596869.4:p.Leu29666Ile
NM_133432.3:c.69880C>A (TTN) NP_597676.3:p.Leu23294Ile
NM_133437.4:c.70081C>A (TTN) NP_597681.4:p.Leu23361Ile
NR_038271.1:n.446+19637G>T (TTN-AS1)
NR_038272.1:n.2043+912G>T (TTN-AS1)
XM_011511729.1:c.95797C>A (TTN) XP_011510031.1:p.Leu31933Ile
XM_011511730.1:c.69691C>A (TTN) XP_011510032.1:p.Leu23231Ile
XM_011511731.1:c.69550C>A (TTN) XP_011510033.1:p.Leu23184Ile
XM_017004819.1:c.95593C>A (TTN) XP_016860308.1:p.Leu31865Ile
XM_017004820.1:c.90991C>A (TTN) XP_016860309.1:p.Leu30331Ile
XM_017004821.1:c.90988C>A (TTN) XP_016860310.1:p.Leu30330Ile
XM_017004822.1:c.88030C>A (TTN) XP_016860311.1:p.Leu29344Ile
XM_017004823.1:c.69646C>A (TTN) XP_016860312.1:p.Leu23216Ile
XM_024453094.1:c.91141C>A (TTN) XP_024308862.1:p.Leu30381Ile
XM_024453095.1:c.91138C>A (TTN) XP_024308863.1:p.Leu30380Ile
XM_024453096.1:c.90571C>A (TTN) XP_024308864.1:p.Leu30191Ile
XM_024453097.1:c.87913C>A (TTN) XP_024308865.1:p.Leu29305Ile
XM_024453098.1:c.87832C>A (TTN) XP_024308866.1:p.Leu29278Ile
XM_024453099.1:c.69595C>A (TTN) XP_024308867.1:p.Leu23199Ile
XM_024453100.1:c.59449C>A (TTN) XP_024308868.1:p.Leu19817Ile