Canonical Allele Identifier: CA349406508

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530384T>C , CM000664.2:g.178530384T>C GRCh38
NC_000002.11:g.179395111T>C , CM000664.1:g.179395111T>C GRCh37
NC_000002.10:g.179103357T>C NCBI36
NG_011618.3:g.305419A>G , LRG_391:g.305419A>G
NG_051363.1:g.12558T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98527A>G (TTN) ENSP00000343764.6:p.Lys32843Glu
ENST00000342175.11:c.79612A>G (TTN) ENSP00000340554.6:p.Lys26538Glu
ENST00000359218.10:c.79411A>G (TTN) ENSP00000352154.5:p.Lys26471Glu
ENST00000342175.10:c.79612A>G (TTN) ENSP00000340554.6:p.Lys26538Glu
ENST00000342992.10:c.98527A>G (TTN) ENSP00000343764.6:p.Lys32843Glu
ENST00000359218.9:c.79411A>G (TTN) ENSP00000352154.5:p.Lys26471Glu
ENST00000460472.6:c.79036A>G (TTN) ENSP00000434586.1:p.Lys26346Glu
ENST00000589042.5:c.106231A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35411Glu
ENST00000591111.5:c.101308A>G (TTN) ENSP00000465570.1:p.Lys33770Glu
ENST00000615779.4:c.101308A>G (TTN) ENSP00000483597.1:p.Lys33770Glu
NM_001256850.1:c.101308A>G (TTN) NP_001243779.1:p.Lys33770Glu
NM_001267550.2:c.106231A>G (TTN) MANE Select NP_001254479.2:p.Lys35411Glu
NM_003319.4:c.79036A>G (TTN) NP_003310.4:p.Lys26346Glu
NM_133378.4:c.98527A>G (TTN) NP_596869.4:p.Lys32843Glu
NM_133432.3:c.79411A>G (TTN) NP_597676.3:p.Lys26471Glu
NM_133437.4:c.79612A>G (TTN) NP_597681.4:p.Lys26538Glu
NR_038271.1:n.446+6748T>C (TTN-AS1)
NR_038272.1:n.220-5348T>C (TTN-AS1)
XM_011511729.1:c.105328A>G (TTN) XP_011510031.1:p.Lys35110Glu
XM_011511730.1:c.79222A>G (TTN) XP_011510032.1:p.Lys26408Glu
XM_011511731.1:c.79081A>G (TTN) XP_011510033.1:p.Lys26361Glu
XM_017004819.1:c.105124A>G (TTN) XP_016860308.1:p.Lys35042Glu
XM_017004820.1:c.100522A>G (TTN) XP_016860309.1:p.Lys33508Glu
XM_017004821.1:c.100519A>G (TTN) XP_016860310.1:p.Lys33507Glu
XM_017004822.1:c.97561A>G (TTN) XP_016860311.1:p.Lys32521Glu
XM_017004823.1:c.79177A>G (TTN) XP_016860312.1:p.Lys26393Glu
XM_024453094.1:c.100672A>G (TTN) XP_024308862.1:p.Lys33558Glu
XM_024453095.1:c.100669A>G (TTN) XP_024308863.1:p.Lys33557Glu
XM_024453096.1:c.100102A>G (TTN) XP_024308864.1:p.Lys33368Glu
XM_024453097.1:c.97444A>G (TTN) XP_024308865.1:p.Lys32482Glu
XM_024453098.1:c.97363A>G (TTN) XP_024308866.1:p.Lys32455Glu
XM_024453099.1:c.79126A>G (TTN) XP_024308867.1:p.Lys26376Glu
XM_024453100.1:c.68980A>G (TTN) XP_024308868.1:p.Lys22994Glu