Canonical Allele Identifier: CA349502603

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551644G>T , CM000664.2:g.178551644G>T GRCh38
NC_000002.11:g.179416371G>T , CM000664.1:g.179416371G>T GRCh37
NC_000002.10:g.179124617G>T NCBI36
NG_011618.3:g.284159C>A , LRG_391:g.284159C>A
NG_051363.1:g.33818G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83552C>A (TTN) ENSP00000343764.6:p.Ala27851Asp
ENST00000342175.11:c.64637C>A (TTN) ENSP00000340554.6:p.Ala21546Asp
ENST00000359218.10:c.64436C>A (TTN) ENSP00000352154.5:p.Ala21479Asp
ENST00000342175.10:c.64637C>A (TTN) ENSP00000340554.6:p.Ala21546Asp
ENST00000342992.10:c.83552C>A (TTN) ENSP00000343764.6:p.Ala27851Asp
ENST00000359218.9:c.64436C>A (TTN) ENSP00000352154.5:p.Ala21479Asp
ENST00000460472.6:c.64061C>A (TTN) ENSP00000434586.1:p.Ala21354Asp
ENST00000589042.5:c.91256C>A (TTN) MANE Select ENSP00000467141.1:p.Ala30419Asp
ENST00000591111.5:c.86333C>A (TTN) ENSP00000465570.1:p.Ala28778Asp
ENST00000615779.4:c.86333C>A (TTN) ENSP00000483597.1:p.Ala28778Asp
NM_001256850.1:c.86333C>A (TTN) NP_001243779.1:p.Ala28778Asp
NM_001267550.2:c.91256C>A (TTN) MANE Select NP_001254479.2:p.Ala30419Asp
NM_003319.4:c.64061C>A (TTN) NP_003310.4:p.Ala21354Asp
NM_133378.4:c.83552C>A (TTN) NP_596869.4:p.Ala27851Asp
NM_133432.3:c.64436C>A (TTN) NP_597676.3:p.Ala21479Asp
NM_133437.4:c.64637C>A (TTN) NP_597681.4:p.Ala21546Asp
NR_038271.1:n.447-19656G>T (TTN-AS1)
NR_038272.1:n.2043+9283G>T (TTN-AS1)
XM_011511729.1:c.90353C>A (TTN) XP_011510031.1:p.Ala30118Asp
XM_011511730.1:c.64247C>A (TTN) XP_011510032.1:p.Ala21416Asp
XM_011511731.1:c.64106C>A (TTN) XP_011510033.1:p.Ala21369Asp
XM_017004819.1:c.90149C>A (TTN) XP_016860308.1:p.Ala30050Asp
XM_017004820.1:c.85547C>A (TTN) XP_016860309.1:p.Ala28516Asp
XM_017004821.1:c.85544C>A (TTN) XP_016860310.1:p.Ala28515Asp
XM_017004822.1:c.82586C>A (TTN) XP_016860311.1:p.Ala27529Asp
XM_017004823.1:c.64202C>A (TTN) XP_016860312.1:p.Ala21401Asp
XM_024453094.1:c.85697C>A (TTN) XP_024308862.1:p.Ala28566Asp
XM_024453095.1:c.85694C>A (TTN) XP_024308863.1:p.Ala28565Asp
XM_024453096.1:c.85127C>A (TTN) XP_024308864.1:p.Ala28376Asp
XM_024453097.1:c.82469C>A (TTN) XP_024308865.1:p.Ala27490Asp
XM_024453098.1:c.82388C>A (TTN) XP_024308866.1:p.Ala27463Asp
XM_024453099.1:c.64151C>A (TTN) XP_024308867.1:p.Ala21384Asp
XM_024453100.1:c.54005C>A (TTN) XP_024308868.1:p.Ala18002Asp