Canonical Allele Identifier: CA349541161

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601542A>C , CM000664.2:g.178601542A>C GRCh38
NC_000002.11:g.179466269A>C , CM000664.1:g.179466269A>C GRCh37
NC_000002.10:g.179174514A>C NCBI36
NG_011618.3:g.234261T>G , LRG_391:g.234261T>G
NG_051363.1:g.83716A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47751T>G (TTN) ENSP00000343764.6:p.Asp15917Glu
ENST00000342175.11:c.28836T>G (TTN) ENSP00000340554.6:p.Asp9612Glu
ENST00000359218.10:c.28635T>G (TTN) ENSP00000352154.5:p.Asp9545Glu
ENST00000342175.10:c.28836T>G (TTN) ENSP00000340554.6:p.Asp9612Glu
ENST00000342992.10:c.47751T>G (TTN) ENSP00000343764.6:p.Asp15917Glu
ENST00000359218.9:c.28635T>G (TTN) ENSP00000352154.5:p.Asp9545Glu
ENST00000460472.6:c.28260T>G (TTN) ENSP00000434586.1:p.Asp9420Glu
ENST00000589042.5:c.55455T>G (TTN) MANE Select ENSP00000467141.1:p.Asp18485Glu
ENST00000591111.5:c.50532T>G (TTN) ENSP00000465570.1:p.Asp16844Glu
ENST00000615779.4:c.50532T>G (TTN) ENSP00000483597.1:p.Asp16844Glu
NM_001256850.1:c.50532T>G (TTN) NP_001243779.1:p.Asp16844Glu
NM_001267550.2:c.55455T>G (TTN) MANE Select NP_001254479.2:p.Asp18485Glu
NM_003319.4:c.28260T>G (TTN) NP_003310.4:p.Asp9420Glu
NM_133378.4:c.47751T>G (TTN) NP_596869.4:p.Asp15917Glu
NM_133432.3:c.28635T>G (TTN) NP_597676.3:p.Asp9545Glu
NM_133437.4:c.28836T>G (TTN) NP_597681.4:p.Asp9612Glu
NR_038271.1:n.682+3861A>C (TTN-AS1)
NR_038272.1:n.3917+875A>C (TTN-AS1)
XM_011511729.1:c.54552T>G (TTN) XP_011510031.1:p.Asp18184Glu
XM_011511730.1:c.28446T>G (TTN) XP_011510032.1:p.Asp9482Glu
XM_011511731.1:c.28305T>G (TTN) XP_011510033.1:p.Asp9435Glu
XM_017004819.1:c.54348T>G (TTN) XP_016860308.1:p.Asp18116Glu
XM_017004820.1:c.49746T>G (TTN) XP_016860309.1:p.Asp16582Glu
XM_017004821.1:c.49743T>G (TTN) XP_016860310.1:p.Asp16581Glu
XM_017004822.1:c.46785T>G (TTN) XP_016860311.1:p.Asp15595Glu
XM_017004823.1:c.28401T>G (TTN) XP_016860312.1:p.Asp9467Glu
XM_024453094.1:c.49896T>G (TTN) XP_024308862.1:p.Asp16632Glu
XM_024453095.1:c.49893T>G (TTN) XP_024308863.1:p.Asp16631Glu
XM_024453096.1:c.49326T>G (TTN) XP_024308864.1:p.Asp16442Glu
XM_024453097.1:c.46668T>G (TTN) XP_024308865.1:p.Asp15556Glu
XM_024453098.1:c.46587T>G (TTN) XP_024308866.1:p.Asp15529Glu
XM_024453099.1:c.28350T>G (TTN) XP_024308867.1:p.Asp9450Glu
XM_024453100.1:c.18204T>G (TTN) XP_024308868.1:p.Asp6068Glu