Canonical Allele Identifier: CA349459759

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545478C>G , CM000664.2:g.178545478C>G GRCh38
NC_000002.11:g.179410205C>G , CM000664.1:g.179410205C>G GRCh37
NC_000002.10:g.179118451C>G NCBI36
NG_011618.3:g.290325G>C , LRG_391:g.290325G>C
NG_051363.1:g.27652C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87928G>C (TTN) ENSP00000343764.6:p.Asp29310His
ENST00000342175.11:c.69013G>C (TTN) ENSP00000340554.6:p.Asp23005His
ENST00000359218.10:c.68812G>C (TTN) ENSP00000352154.5:p.Asp22938His
ENST00000342175.10:c.69013G>C (TTN) ENSP00000340554.6:p.Asp23005His
ENST00000342992.10:c.87928G>C (TTN) ENSP00000343764.6:p.Asp29310His
ENST00000359218.9:c.68812G>C (TTN) ENSP00000352154.5:p.Asp22938His
ENST00000460472.6:c.68437G>C (TTN) ENSP00000434586.1:p.Asp22813His
ENST00000589042.5:c.95632G>C (TTN) MANE Select ENSP00000467141.1:p.Asp31878His
ENST00000591111.5:c.90709G>C (TTN) ENSP00000465570.1:p.Asp30237His
ENST00000615779.4:c.90709G>C (TTN) ENSP00000483597.1:p.Asp30237His
NM_001256850.1:c.90709G>C (TTN) NP_001243779.1:p.Asp30237His
NM_001267550.2:c.95632G>C (TTN) MANE Select NP_001254479.2:p.Asp31878His
NM_003319.4:c.68437G>C (TTN) NP_003310.4:p.Asp22813His
NM_133378.4:c.87928G>C (TTN) NP_596869.4:p.Asp29310His
NM_133432.3:c.68812G>C (TTN) NP_597676.3:p.Asp22938His
NM_133437.4:c.69013G>C (TTN) NP_597681.4:p.Asp23005His
NR_038271.1:n.446+21842C>G (TTN-AS1)
NR_038272.1:n.2043+3117C>G (TTN-AS1)
XM_011511729.1:c.94729G>C (TTN) XP_011510031.1:p.Asp31577His
XM_011511730.1:c.68623G>C (TTN) XP_011510032.1:p.Asp22875His
XM_011511731.1:c.68482G>C (TTN) XP_011510033.1:p.Asp22828His
XM_017004819.1:c.94525G>C (TTN) XP_016860308.1:p.Asp31509His
XM_017004820.1:c.89923G>C (TTN) XP_016860309.1:p.Asp29975His
XM_017004821.1:c.89920G>C (TTN) XP_016860310.1:p.Asp29974His
XM_017004822.1:c.86962G>C (TTN) XP_016860311.1:p.Asp28988His
XM_017004823.1:c.68578G>C (TTN) XP_016860312.1:p.Asp22860His
XM_024453094.1:c.90073G>C (TTN) XP_024308862.1:p.Asp30025His
XM_024453095.1:c.90070G>C (TTN) XP_024308863.1:p.Asp30024His
XM_024453096.1:c.89503G>C (TTN) XP_024308864.1:p.Asp29835His
XM_024453097.1:c.86845G>C (TTN) XP_024308865.1:p.Asp28949His
XM_024453098.1:c.86764G>C (TTN) XP_024308866.1:p.Asp28922His
XM_024453099.1:c.68527G>C (TTN) XP_024308867.1:p.Asp22843His
XM_024453100.1:c.58381G>C (TTN) XP_024308868.1:p.Asp19461His