Canonical Allele Identifier: CA349618080

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618044A>T , CM000664.2:g.178618044A>T GRCh38
NC_000002.11:g.179482771A>T , CM000664.1:g.179482771A>T GRCh37
NC_000002.10:g.179191016A>T NCBI36
NG_011618.3:g.217759T>A , LRG_391:g.217759T>A
NG_051363.1:g.100218A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39603T>A (TTN) ENSP00000343764.6:p.Asp13201Glu
ENST00000342175.11:c.20688T>A (TTN) ENSP00000340554.6:p.Asp6896Glu
ENST00000359218.10:c.20487T>A (TTN) ENSP00000352154.5:p.Asp6829Glu
ENST00000342175.10:c.20688T>A (TTN) ENSP00000340554.6:p.Asp6896Glu
ENST00000342992.10:c.39603T>A (TTN) ENSP00000343764.6:p.Asp13201Glu
ENST00000359218.9:c.20487T>A (TTN) ENSP00000352154.5:p.Asp6829Glu
ENST00000460472.6:c.20112T>A (TTN) ENSP00000434586.1:p.Asp6704Glu
ENST00000589042.5:c.47307T>A (TTN) MANE Select ENSP00000467141.1:p.Asp15769Glu
ENST00000591111.5:c.42384T>A (TTN) ENSP00000465570.1:p.Asp14128Glu
ENST00000615779.4:c.42384T>A (TTN) ENSP00000483597.1:p.Asp14128Glu
NM_001256850.1:c.42384T>A (TTN) NP_001243779.1:p.Asp14128Glu
NM_001267550.2:c.47307T>A (TTN) MANE Select NP_001254479.2:p.Asp15769Glu
NM_003319.4:c.20112T>A (TTN) NP_003310.4:p.Asp6704Glu
NM_133378.4:c.39603T>A (TTN) NP_596869.4:p.Asp13201Glu
NM_133432.3:c.20487T>A (TTN) NP_597676.3:p.Asp6829Glu
NM_133437.4:c.20688T>A (TTN) NP_597681.4:p.Asp6896Glu
NR_038271.1:n.1605-1709A>T (TTN-AS1)
XM_011511729.1:c.46404T>A (TTN) XP_011510031.1:p.Asp15468Glu
XM_011511730.1:c.20298T>A (TTN) XP_011510032.1:p.Asp6766Glu
XM_011511731.1:c.20157T>A (TTN) XP_011510033.1:p.Asp6719Glu
XM_017004819.1:c.46200T>A (TTN) XP_016860308.1:p.Asp15400Glu
XM_017004820.1:c.41598T>A (TTN) XP_016860309.1:p.Asp13866Glu
XM_017004821.1:c.41595T>A (TTN) XP_016860310.1:p.Asp13865Glu
XM_017004822.1:c.38637T>A (TTN) XP_016860311.1:p.Asp12879Glu
XM_017004823.1:c.20253T>A (TTN) XP_016860312.1:p.Asp6751Glu
XM_024453094.1:c.41748T>A (TTN) XP_024308862.1:p.Asp13916Glu
XM_024453095.1:c.41745T>A (TTN) XP_024308863.1:p.Asp13915Glu
XM_024453096.1:c.41178T>A (TTN) XP_024308864.1:p.Asp13726Glu
XM_024453097.1:c.38520T>A (TTN) XP_024308865.1:p.Asp12840Glu
XM_024453098.1:c.38439T>A (TTN) XP_024308866.1:p.Asp12813Glu
XM_024453099.1:c.20202T>A (TTN) XP_024308867.1:p.Asp6734Glu
XM_024453100.1:c.10056T>A (TTN) XP_024308868.1:p.Asp3352Glu