Canonical Allele Identifier: CA349457153

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544409G>C , CM000664.2:g.178544409G>C GRCh38
NC_000002.11:g.179409136G>C , CM000664.1:g.179409136G>C GRCh37
NC_000002.10:g.179117382G>C NCBI36
NG_011618.3:g.291394C>G , LRG_391:g.291394C>G
NG_051363.1:g.26583G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88116C>G (TTN) ENSP00000343764.6:p.Asp29372Glu
ENST00000342175.11:c.69201C>G (TTN) ENSP00000340554.6:p.Asp23067Glu
ENST00000359218.10:c.69000C>G (TTN) ENSP00000352154.5:p.Asp23000Glu
ENST00000342175.10:c.69201C>G (TTN) ENSP00000340554.6:p.Asp23067Glu
ENST00000342992.10:c.88116C>G (TTN) ENSP00000343764.6:p.Asp29372Glu
ENST00000359218.9:c.69000C>G (TTN) ENSP00000352154.5:p.Asp23000Glu
ENST00000460472.6:c.68625C>G (TTN) ENSP00000434586.1:p.Asp22875Glu
ENST00000589042.5:c.95820C>G (TTN) MANE Select ENSP00000467141.1:p.Asp31940Glu
ENST00000591111.5:c.90897C>G (TTN) ENSP00000465570.1:p.Asp30299Glu
ENST00000615779.4:c.90897C>G (TTN) ENSP00000483597.1:p.Asp30299Glu
NM_001256850.1:c.90897C>G (TTN) NP_001243779.1:p.Asp30299Glu
NM_001267550.2:c.95820C>G (TTN) MANE Select NP_001254479.2:p.Asp31940Glu
NM_003319.4:c.68625C>G (TTN) NP_003310.4:p.Asp22875Glu
NM_133378.4:c.88116C>G (TTN) NP_596869.4:p.Asp29372Glu
NM_133432.3:c.69000C>G (TTN) NP_597676.3:p.Asp23000Glu
NM_133437.4:c.69201C>G (TTN) NP_597681.4:p.Asp23067Glu
NR_038271.1:n.446+20773G>C (TTN-AS1)
NR_038272.1:n.2043+2048G>C (TTN-AS1)
XM_011511729.1:c.94917C>G (TTN) XP_011510031.1:p.Asp31639Glu
XM_011511730.1:c.68811C>G (TTN) XP_011510032.1:p.Asp22937Glu
XM_011511731.1:c.68670C>G (TTN) XP_011510033.1:p.Asp22890Glu
XM_017004819.1:c.94713C>G (TTN) XP_016860308.1:p.Asp31571Glu
XM_017004820.1:c.90111C>G (TTN) XP_016860309.1:p.Asp30037Glu
XM_017004821.1:c.90108C>G (TTN) XP_016860310.1:p.Asp30036Glu
XM_017004822.1:c.87150C>G (TTN) XP_016860311.1:p.Asp29050Glu
XM_017004823.1:c.68766C>G (TTN) XP_016860312.1:p.Asp22922Glu
XM_024453094.1:c.90261C>G (TTN) XP_024308862.1:p.Asp30087Glu
XM_024453095.1:c.90258C>G (TTN) XP_024308863.1:p.Asp30086Glu
XM_024453096.1:c.89691C>G (TTN) XP_024308864.1:p.Asp29897Glu
XM_024453097.1:c.87033C>G (TTN) XP_024308865.1:p.Asp29011Glu
XM_024453098.1:c.86952C>G (TTN) XP_024308866.1:p.Asp28984Glu
XM_024453099.1:c.68715C>G (TTN) XP_024308867.1:p.Asp22905Glu
XM_024453100.1:c.58569C>G (TTN) XP_024308868.1:p.Asp19523Glu