Canonical Allele Identifier: CA349496137

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549829A>C , CM000664.2:g.178549829A>C GRCh38
NC_000002.11:g.179414556A>C , CM000664.1:g.179414556A>C GRCh37
NC_000002.10:g.179122802A>C NCBI36
NG_011618.3:g.285974T>G , LRG_391:g.285974T>G
NG_051363.1:g.32003A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84189T>G (TTN) ENSP00000343764.6:p.Asn28063Lys
ENST00000342175.11:c.65274T>G (TTN) ENSP00000340554.6:p.Asn21758Lys
ENST00000359218.10:c.65073T>G (TTN) ENSP00000352154.5:p.Asn21691Lys
ENST00000342175.10:c.65274T>G (TTN) ENSP00000340554.6:p.Asn21758Lys
ENST00000342992.10:c.84189T>G (TTN) ENSP00000343764.6:p.Asn28063Lys
ENST00000359218.9:c.65073T>G (TTN) ENSP00000352154.5:p.Asn21691Lys
ENST00000460472.6:c.64698T>G (TTN) ENSP00000434586.1:p.Asn21566Lys
ENST00000589042.5:c.91893T>G (TTN) MANE Select ENSP00000467141.1:p.Asn30631Lys
ENST00000591111.5:c.86970T>G (TTN) ENSP00000465570.1:p.Asn28990Lys
ENST00000615779.4:c.86970T>G (TTN) ENSP00000483597.1:p.Asn28990Lys
NM_001256850.1:c.86970T>G (TTN) NP_001243779.1:p.Asn28990Lys
NM_001267550.2:c.91893T>G (TTN) MANE Select NP_001254479.2:p.Asn30631Lys
NM_003319.4:c.64698T>G (TTN) NP_003310.4:p.Asn21566Lys
NM_133378.4:c.84189T>G (TTN) NP_596869.4:p.Asn28063Lys
NM_133432.3:c.65073T>G (TTN) NP_597676.3:p.Asn21691Lys
NM_133437.4:c.65274T>G (TTN) NP_597681.4:p.Asn21758Lys
NR_038271.1:n.447-21471A>C (TTN-AS1)
NR_038272.1:n.2043+7468A>C (TTN-AS1)
XM_011511729.1:c.90990T>G (TTN) XP_011510031.1:p.Asn30330Lys
XM_011511730.1:c.64884T>G (TTN) XP_011510032.1:p.Asn21628Lys
XM_011511731.1:c.64743T>G (TTN) XP_011510033.1:p.Asn21581Lys
XM_017004819.1:c.90786T>G (TTN) XP_016860308.1:p.Asn30262Lys
XM_017004820.1:c.86184T>G (TTN) XP_016860309.1:p.Asn28728Lys
XM_017004821.1:c.86181T>G (TTN) XP_016860310.1:p.Asn28727Lys
XM_017004822.1:c.83223T>G (TTN) XP_016860311.1:p.Asn27741Lys
XM_017004823.1:c.64839T>G (TTN) XP_016860312.1:p.Asn21613Lys
XM_024453094.1:c.86334T>G (TTN) XP_024308862.1:p.Asn28778Lys
XM_024453095.1:c.86331T>G (TTN) XP_024308863.1:p.Asn28777Lys
XM_024453096.1:c.85764T>G (TTN) XP_024308864.1:p.Asn28588Lys
XM_024453097.1:c.83106T>G (TTN) XP_024308865.1:p.Asn27702Lys
XM_024453098.1:c.83025T>G (TTN) XP_024308866.1:p.Asn27675Lys
XM_024453099.1:c.64788T>G (TTN) XP_024308867.1:p.Asn21596Lys
XM_024453100.1:c.54642T>G (TTN) XP_024308868.1:p.Asn18214Lys