Canonical Allele Identifier: CA349471597

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546771C>T , CM000664.2:g.178546771C>T GRCh38
NC_000002.11:g.179411498C>T , CM000664.1:g.179411498C>T GRCh37
NC_000002.10:g.179119744C>T NCBI36
NG_011618.3:g.289032G>A , LRG_391:g.289032G>A
NG_051363.1:g.28945C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86953G>A (TTN) ENSP00000343764.6:p.Asp28985Asn
ENST00000342175.11:c.68038G>A (TTN) ENSP00000340554.6:p.Asp22680Asn
ENST00000359218.10:c.67837G>A (TTN) ENSP00000352154.5:p.Asp22613Asn
ENST00000342175.10:c.68038G>A (TTN) ENSP00000340554.6:p.Asp22680Asn
ENST00000342992.10:c.86953G>A (TTN) ENSP00000343764.6:p.Asp28985Asn
ENST00000359218.9:c.67837G>A (TTN) ENSP00000352154.5:p.Asp22613Asn
ENST00000460472.6:c.67462G>A (TTN) ENSP00000434586.1:p.Asp22488Asn
ENST00000589042.5:c.94657G>A (TTN) MANE Select ENSP00000467141.1:p.Asp31553Asn
ENST00000591111.5:c.89734G>A (TTN) ENSP00000465570.1:p.Asp29912Asn
ENST00000615779.4:c.89734G>A (TTN) ENSP00000483597.1:p.Asp29912Asn
NM_001256850.1:c.89734G>A (TTN) NP_001243779.1:p.Asp29912Asn
NM_001267550.2:c.94657G>A (TTN) MANE Select NP_001254479.2:p.Asp31553Asn
NM_003319.4:c.67462G>A (TTN) NP_003310.4:p.Asp22488Asn
NM_133378.4:c.86953G>A (TTN) NP_596869.4:p.Asp28985Asn
NM_133432.3:c.67837G>A (TTN) NP_597676.3:p.Asp22613Asn
NM_133437.4:c.68038G>A (TTN) NP_597681.4:p.Asp22680Asn
NR_038271.1:n.446+23135C>T (TTN-AS1)
NR_038272.1:n.2043+4410C>T (TTN-AS1)
XM_011511729.1:c.93754G>A (TTN) XP_011510031.1:p.Asp31252Asn
XM_011511730.1:c.67648G>A (TTN) XP_011510032.1:p.Asp22550Asn
XM_011511731.1:c.67507G>A (TTN) XP_011510033.1:p.Asp22503Asn
XM_017004819.1:c.93550G>A (TTN) XP_016860308.1:p.Asp31184Asn
XM_017004820.1:c.88948G>A (TTN) XP_016860309.1:p.Asp29650Asn
XM_017004821.1:c.88945G>A (TTN) XP_016860310.1:p.Asp29649Asn
XM_017004822.1:c.85987G>A (TTN) XP_016860311.1:p.Asp28663Asn
XM_017004823.1:c.67603G>A (TTN) XP_016860312.1:p.Asp22535Asn
XM_024453094.1:c.89098G>A (TTN) XP_024308862.1:p.Asp29700Asn
XM_024453095.1:c.89095G>A (TTN) XP_024308863.1:p.Asp29699Asn
XM_024453096.1:c.88528G>A (TTN) XP_024308864.1:p.Asp29510Asn
XM_024453097.1:c.85870G>A (TTN) XP_024308865.1:p.Asp28624Asn
XM_024453098.1:c.85789G>A (TTN) XP_024308866.1:p.Asp28597Asn
XM_024453099.1:c.67552G>A (TTN) XP_024308867.1:p.Asp22518Asn
XM_024453100.1:c.57406G>A (TTN) XP_024308868.1:p.Asp19136Asn