Canonical Allele Identifier: CA349454206

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544089C>A , CM000664.2:g.178544089C>A GRCh38
NC_000002.11:g.179408816C>A , CM000664.1:g.179408816C>A GRCh37
NC_000002.10:g.179117062C>A NCBI36
NG_011618.3:g.291714G>T , LRG_391:g.291714G>T
NG_051363.1:g.26263C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88351G>T (TTN) ENSP00000343764.6:p.Asp29451Tyr
ENST00000342175.11:c.69436G>T (TTN) ENSP00000340554.6:p.Asp23146Tyr
ENST00000359218.10:c.69235G>T (TTN) ENSP00000352154.5:p.Asp23079Tyr
ENST00000342175.10:c.69436G>T (TTN) ENSP00000340554.6:p.Asp23146Tyr
ENST00000342992.10:c.88351G>T (TTN) ENSP00000343764.6:p.Asp29451Tyr
ENST00000359218.9:c.69235G>T (TTN) ENSP00000352154.5:p.Asp23079Tyr
ENST00000460472.6:c.68860G>T (TTN) ENSP00000434586.1:p.Asp22954Tyr
ENST00000589042.5:c.96055G>T (TTN) MANE Select ENSP00000467141.1:p.Asp32019Tyr
ENST00000591111.5:c.91132G>T (TTN) ENSP00000465570.1:p.Asp30378Tyr
ENST00000615779.4:c.91132G>T (TTN) ENSP00000483597.1:p.Asp30378Tyr
NM_001256850.1:c.91132G>T (TTN) NP_001243779.1:p.Asp30378Tyr
NM_001267550.2:c.96055G>T (TTN) MANE Select NP_001254479.2:p.Asp32019Tyr
NM_003319.4:c.68860G>T (TTN) NP_003310.4:p.Asp22954Tyr
NM_133378.4:c.88351G>T (TTN) NP_596869.4:p.Asp29451Tyr
NM_133432.3:c.69235G>T (TTN) NP_597676.3:p.Asp23079Tyr
NM_133437.4:c.69436G>T (TTN) NP_597681.4:p.Asp23146Tyr
NR_038271.1:n.446+20453C>A (TTN-AS1)
NR_038272.1:n.2043+1728C>A (TTN-AS1)
XM_011511729.1:c.95152G>T (TTN) XP_011510031.1:p.Asp31718Tyr
XM_011511730.1:c.69046G>T (TTN) XP_011510032.1:p.Asp23016Tyr
XM_011511731.1:c.68905G>T (TTN) XP_011510033.1:p.Asp22969Tyr
XM_017004819.1:c.94948G>T (TTN) XP_016860308.1:p.Asp31650Tyr
XM_017004820.1:c.90346G>T (TTN) XP_016860309.1:p.Asp30116Tyr
XM_017004821.1:c.90343G>T (TTN) XP_016860310.1:p.Asp30115Tyr
XM_017004822.1:c.87385G>T (TTN) XP_016860311.1:p.Asp29129Tyr
XM_017004823.1:c.69001G>T (TTN) XP_016860312.1:p.Asp23001Tyr
XM_024453094.1:c.90496G>T (TTN) XP_024308862.1:p.Asp30166Tyr
XM_024453095.1:c.90493G>T (TTN) XP_024308863.1:p.Asp30165Tyr
XM_024453096.1:c.89926G>T (TTN) XP_024308864.1:p.Asp29976Tyr
XM_024453097.1:c.87268G>T (TTN) XP_024308865.1:p.Asp29090Tyr
XM_024453098.1:c.87187G>T (TTN) XP_024308866.1:p.Asp29063Tyr
XM_024453099.1:c.68950G>T (TTN) XP_024308867.1:p.Asp22984Tyr
XM_024453100.1:c.58804G>T (TTN) XP_024308868.1:p.Asp19602Tyr