Canonical Allele Identifier: CA349411679

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532155T>A , CM000664.2:g.178532155T>A GRCh38
NC_000002.11:g.179396882T>A , CM000664.1:g.179396882T>A GRCh37
NC_000002.10:g.179105128T>A NCBI36
NG_011618.3:g.303648A>T , LRG_391:g.303648A>T
NG_051363.1:g.14329T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96756A>T (TTN) ENSP00000343764.6:p.Glu32252Asp
ENST00000342175.11:c.77841A>T (TTN) ENSP00000340554.6:p.Glu25947Asp
ENST00000359218.10:c.77640A>T (TTN) ENSP00000352154.5:p.Glu25880Asp
ENST00000342175.10:c.77841A>T (TTN) ENSP00000340554.6:p.Glu25947Asp
ENST00000342992.10:c.96756A>T (TTN) ENSP00000343764.6:p.Glu32252Asp
ENST00000359218.9:c.77640A>T (TTN) ENSP00000352154.5:p.Glu25880Asp
ENST00000460472.6:c.77265A>T (TTN) ENSP00000434586.1:p.Glu25755Asp
ENST00000589042.5:c.104460A>T (TTN) MANE Select ENSP00000467141.1:p.Glu34820Asp
ENST00000591111.5:c.99537A>T (TTN) ENSP00000465570.1:p.Glu33179Asp
ENST00000615779.4:c.99537A>T (TTN) ENSP00000483597.1:p.Glu33179Asp
NM_001256850.1:c.99537A>T (TTN) NP_001243779.1:p.Glu33179Asp
NM_001267550.2:c.104460A>T (TTN) MANE Select NP_001254479.2:p.Glu34820Asp
NM_003319.4:c.77265A>T (TTN) NP_003310.4:p.Glu25755Asp
NM_133378.4:c.96756A>T (TTN) NP_596869.4:p.Glu32252Asp
NM_133432.3:c.77640A>T (TTN) NP_597676.3:p.Glu25880Asp
NM_133437.4:c.77841A>T (TTN) NP_597681.4:p.Glu25947Asp
NR_038271.1:n.446+8519T>A (TTN-AS1)
NR_038272.1:n.220-3577T>A (TTN-AS1)
XM_011511729.1:c.103557A>T (TTN) XP_011510031.1:p.Glu34519Asp
XM_011511730.1:c.77451A>T (TTN) XP_011510032.1:p.Glu25817Asp
XM_011511731.1:c.77310A>T (TTN) XP_011510033.1:p.Glu25770Asp
XM_017004819.1:c.103353A>T (TTN) XP_016860308.1:p.Glu34451Asp
XM_017004820.1:c.98751A>T (TTN) XP_016860309.1:p.Glu32917Asp
XM_017004821.1:c.98748A>T (TTN) XP_016860310.1:p.Glu32916Asp
XM_017004822.1:c.95790A>T (TTN) XP_016860311.1:p.Glu31930Asp
XM_017004823.1:c.77406A>T (TTN) XP_016860312.1:p.Glu25802Asp
XM_024453094.1:c.98901A>T (TTN) XP_024308862.1:p.Glu32967Asp
XM_024453095.1:c.98898A>T (TTN) XP_024308863.1:p.Glu32966Asp
XM_024453096.1:c.98331A>T (TTN) XP_024308864.1:p.Glu32777Asp
XM_024453097.1:c.95673A>T (TTN) XP_024308865.1:p.Glu31891Asp
XM_024453098.1:c.95592A>T (TTN) XP_024308866.1:p.Glu31864Asp
XM_024453099.1:c.77355A>T (TTN) XP_024308867.1:p.Glu25785Asp
XM_024453100.1:c.67209A>T (TTN) XP_024308868.1:p.Glu22403Asp