Canonical Allele Identifier: CA349411516

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532108A>T , CM000664.2:g.178532108A>T GRCh38
NC_000002.11:g.179396835A>T , CM000664.1:g.179396835A>T GRCh37
NC_000002.10:g.179105081A>T NCBI36
NG_011618.3:g.303695T>A , LRG_391:g.303695T>A
NG_051363.1:g.14282A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.96803T>A (TTN) ENSP00000343764.6:p.Leu32268Gln
ENST00000342175.11:c.77888T>A (TTN) ENSP00000340554.6:p.Leu25963Gln
ENST00000359218.10:c.77687T>A (TTN) ENSP00000352154.5:p.Leu25896Gln
ENST00000342175.10:c.77888T>A (TTN) ENSP00000340554.6:p.Leu25963Gln
ENST00000342992.10:c.96803T>A (TTN) ENSP00000343764.6:p.Leu32268Gln
ENST00000359218.9:c.77687T>A (TTN) ENSP00000352154.5:p.Leu25896Gln
ENST00000460472.6:c.77312T>A (TTN) ENSP00000434586.1:p.Leu25771Gln
ENST00000589042.5:c.104507T>A (TTN) MANE Select ENSP00000467141.1:p.Leu34836Gln
ENST00000591111.5:c.99584T>A (TTN) ENSP00000465570.1:p.Leu33195Gln
ENST00000615779.4:c.99584T>A (TTN) ENSP00000483597.1:p.Leu33195Gln
NM_001256850.1:c.99584T>A (TTN) NP_001243779.1:p.Leu33195Gln
NM_001267550.2:c.104507T>A (TTN) MANE Select NP_001254479.2:p.Leu34836Gln
NM_003319.4:c.77312T>A (TTN) NP_003310.4:p.Leu25771Gln
NM_133378.4:c.96803T>A (TTN) NP_596869.4:p.Leu32268Gln
NM_133432.3:c.77687T>A (TTN) NP_597676.3:p.Leu25896Gln
NM_133437.4:c.77888T>A (TTN) NP_597681.4:p.Leu25963Gln
NR_038271.1:n.446+8472A>T (TTN-AS1)
NR_038272.1:n.220-3624A>T (TTN-AS1)
XM_011511729.1:c.103604T>A (TTN) XP_011510031.1:p.Leu34535Gln
XM_011511730.1:c.77498T>A (TTN) XP_011510032.1:p.Leu25833Gln
XM_011511731.1:c.77357T>A (TTN) XP_011510033.1:p.Leu25786Gln
XM_017004819.1:c.103400T>A (TTN) XP_016860308.1:p.Leu34467Gln
XM_017004820.1:c.98798T>A (TTN) XP_016860309.1:p.Leu32933Gln
XM_017004821.1:c.98795T>A (TTN) XP_016860310.1:p.Leu32932Gln
XM_017004822.1:c.95837T>A (TTN) XP_016860311.1:p.Leu31946Gln
XM_017004823.1:c.77453T>A (TTN) XP_016860312.1:p.Leu25818Gln
XM_024453094.1:c.98948T>A (TTN) XP_024308862.1:p.Leu32983Gln
XM_024453095.1:c.98945T>A (TTN) XP_024308863.1:p.Leu32982Gln
XM_024453096.1:c.98378T>A (TTN) XP_024308864.1:p.Leu32793Gln
XM_024453097.1:c.95720T>A (TTN) XP_024308865.1:p.Leu31907Gln
XM_024453098.1:c.95639T>A (TTN) XP_024308866.1:p.Leu31880Gln
XM_024453099.1:c.77402T>A (TTN) XP_024308867.1:p.Leu25801Gln
XM_024453100.1:c.67256T>A (TTN) XP_024308868.1:p.Leu22419Gln