Canonical Allele Identifier: CA349456130

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544322T>G , CM000664.2:g.178544322T>G GRCh38
NC_000002.11:g.179409049T>G , CM000664.1:g.179409049T>G GRCh37
NC_000002.10:g.179117295T>G NCBI36
NG_011618.3:g.291481A>C , LRG_391:g.291481A>C
NG_051363.1:g.26496T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88203A>C (TTN) ENSP00000343764.6:p.Glu29401Asp
ENST00000342175.11:c.69288A>C (TTN) ENSP00000340554.6:p.Glu23096Asp
ENST00000359218.10:c.69087A>C (TTN) ENSP00000352154.5:p.Glu23029Asp
ENST00000342175.10:c.69288A>C (TTN) ENSP00000340554.6:p.Glu23096Asp
ENST00000342992.10:c.88203A>C (TTN) ENSP00000343764.6:p.Glu29401Asp
ENST00000359218.9:c.69087A>C (TTN) ENSP00000352154.5:p.Glu23029Asp
ENST00000460472.6:c.68712A>C (TTN) ENSP00000434586.1:p.Glu22904Asp
ENST00000589042.5:c.95907A>C (TTN) MANE Select ENSP00000467141.1:p.Glu31969Asp
ENST00000591111.5:c.90984A>C (TTN) ENSP00000465570.1:p.Glu30328Asp
ENST00000615779.4:c.90984A>C (TTN) ENSP00000483597.1:p.Glu30328Asp
NM_001256850.1:c.90984A>C (TTN) NP_001243779.1:p.Glu30328Asp
NM_001267550.2:c.95907A>C (TTN) MANE Select NP_001254479.2:p.Glu31969Asp
NM_003319.4:c.68712A>C (TTN) NP_003310.4:p.Glu22904Asp
NM_133378.4:c.88203A>C (TTN) NP_596869.4:p.Glu29401Asp
NM_133432.3:c.69087A>C (TTN) NP_597676.3:p.Glu23029Asp
NM_133437.4:c.69288A>C (TTN) NP_597681.4:p.Glu23096Asp
NR_038271.1:n.446+20686T>G (TTN-AS1)
NR_038272.1:n.2043+1961T>G (TTN-AS1)
XM_011511729.1:c.95004A>C (TTN) XP_011510031.1:p.Glu31668Asp
XM_011511730.1:c.68898A>C (TTN) XP_011510032.1:p.Glu22966Asp
XM_011511731.1:c.68757A>C (TTN) XP_011510033.1:p.Glu22919Asp
XM_017004819.1:c.94800A>C (TTN) XP_016860308.1:p.Glu31600Asp
XM_017004820.1:c.90198A>C (TTN) XP_016860309.1:p.Glu30066Asp
XM_017004821.1:c.90195A>C (TTN) XP_016860310.1:p.Glu30065Asp
XM_017004822.1:c.87237A>C (TTN) XP_016860311.1:p.Glu29079Asp
XM_017004823.1:c.68853A>C (TTN) XP_016860312.1:p.Glu22951Asp
XM_024453094.1:c.90348A>C (TTN) XP_024308862.1:p.Glu30116Asp
XM_024453095.1:c.90345A>C (TTN) XP_024308863.1:p.Glu30115Asp
XM_024453096.1:c.89778A>C (TTN) XP_024308864.1:p.Glu29926Asp
XM_024453097.1:c.87120A>C (TTN) XP_024308865.1:p.Glu29040Asp
XM_024453098.1:c.87039A>C (TTN) XP_024308866.1:p.Glu29013Asp
XM_024453099.1:c.68802A>C (TTN) XP_024308867.1:p.Glu22934Asp
XM_024453100.1:c.58656A>C (TTN) XP_024308868.1:p.Glu19552Asp