Canonical Allele Identifier: CA349511621

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552556A>T , CM000664.2:g.178552556A>T GRCh38
NC_000002.11:g.179417283A>T , CM000664.1:g.179417283A>T GRCh37
NC_000002.10:g.179125529A>T NCBI36
NG_011618.3:g.283247T>A , LRG_391:g.283247T>A
NG_051363.1:g.34730A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82640T>A (TTN) ENSP00000343764.6:p.Val27547Asp
ENST00000342175.11:c.63725T>A (TTN) ENSP00000340554.6:p.Val21242Asp
ENST00000359218.10:c.63524T>A (TTN) ENSP00000352154.5:p.Val21175Asp
ENST00000342175.10:c.63725T>A (TTN) ENSP00000340554.6:p.Val21242Asp
ENST00000342992.10:c.82640T>A (TTN) ENSP00000343764.6:p.Val27547Asp
ENST00000359218.9:c.63524T>A (TTN) ENSP00000352154.5:p.Val21175Asp
ENST00000460472.6:c.63149T>A (TTN) ENSP00000434586.1:p.Val21050Asp
ENST00000589042.5:c.90344T>A (TTN) MANE Select ENSP00000467141.1:p.Val30115Asp
ENST00000591111.5:c.85421T>A (TTN) ENSP00000465570.1:p.Val28474Asp
ENST00000615779.4:c.85421T>A (TTN) ENSP00000483597.1:p.Val28474Asp
NM_001256850.1:c.85421T>A (TTN) NP_001243779.1:p.Val28474Asp
NM_001267550.2:c.90344T>A (TTN) MANE Select NP_001254479.2:p.Val30115Asp
NM_003319.4:c.63149T>A (TTN) NP_003310.4:p.Val21050Asp
NM_133378.4:c.82640T>A (TTN) NP_596869.4:p.Val27547Asp
NM_133432.3:c.63524T>A (TTN) NP_597676.3:p.Val21175Asp
NM_133437.4:c.63725T>A (TTN) NP_597681.4:p.Val21242Asp
NR_038271.1:n.447-18744A>T (TTN-AS1)
NR_038272.1:n.2043+10195A>T (TTN-AS1)
XM_011511729.1:c.89441T>A (TTN) XP_011510031.1:p.Val29814Asp
XM_011511730.1:c.63335T>A (TTN) XP_011510032.1:p.Val21112Asp
XM_011511731.1:c.63194T>A (TTN) XP_011510033.1:p.Val21065Asp
XM_017004819.1:c.89237T>A (TTN) XP_016860308.1:p.Val29746Asp
XM_017004820.1:c.84635T>A (TTN) XP_016860309.1:p.Val28212Asp
XM_017004821.1:c.84632T>A (TTN) XP_016860310.1:p.Val28211Asp
XM_017004822.1:c.81674T>A (TTN) XP_016860311.1:p.Val27225Asp
XM_017004823.1:c.63290T>A (TTN) XP_016860312.1:p.Val21097Asp
XM_024453094.1:c.84785T>A (TTN) XP_024308862.1:p.Val28262Asp
XM_024453095.1:c.84782T>A (TTN) XP_024308863.1:p.Val28261Asp
XM_024453096.1:c.84215T>A (TTN) XP_024308864.1:p.Val28072Asp
XM_024453097.1:c.81557T>A (TTN) XP_024308865.1:p.Val27186Asp
XM_024453098.1:c.81476T>A (TTN) XP_024308866.1:p.Val27159Asp
XM_024453099.1:c.63239T>A (TTN) XP_024308867.1:p.Val21080Asp
XM_024453100.1:c.53093T>A (TTN) XP_024308868.1:p.Val17698Asp