Canonical Allele Identifier: CA349470163

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546620A>T , CM000664.2:g.178546620A>T GRCh38
NC_000002.11:g.179411347A>T , CM000664.1:g.179411347A>T GRCh37
NC_000002.10:g.179119593A>T NCBI36
NG_011618.3:g.289183T>A , LRG_391:g.289183T>A
NG_051363.1:g.28794A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87104T>A (TTN) ENSP00000343764.6:p.Val29035Asp
ENST00000342175.11:c.68189T>A (TTN) ENSP00000340554.6:p.Val22730Asp
ENST00000359218.10:c.67988T>A (TTN) ENSP00000352154.5:p.Val22663Asp
ENST00000342175.10:c.68189T>A (TTN) ENSP00000340554.6:p.Val22730Asp
ENST00000342992.10:c.87104T>A (TTN) ENSP00000343764.6:p.Val29035Asp
ENST00000359218.9:c.67988T>A (TTN) ENSP00000352154.5:p.Val22663Asp
ENST00000460472.6:c.67613T>A (TTN) ENSP00000434586.1:p.Val22538Asp
ENST00000589042.5:c.94808T>A (TTN) MANE Select ENSP00000467141.1:p.Val31603Asp
ENST00000591111.5:c.89885T>A (TTN) ENSP00000465570.1:p.Val29962Asp
ENST00000615779.4:c.89885T>A (TTN) ENSP00000483597.1:p.Val29962Asp
NM_001256850.1:c.89885T>A (TTN) NP_001243779.1:p.Val29962Asp
NM_001267550.2:c.94808T>A (TTN) MANE Select NP_001254479.2:p.Val31603Asp
NM_003319.4:c.67613T>A (TTN) NP_003310.4:p.Val22538Asp
NM_133378.4:c.87104T>A (TTN) NP_596869.4:p.Val29035Asp
NM_133432.3:c.67988T>A (TTN) NP_597676.3:p.Val22663Asp
NM_133437.4:c.68189T>A (TTN) NP_597681.4:p.Val22730Asp
NR_038271.1:n.446+22984A>T (TTN-AS1)
NR_038272.1:n.2043+4259A>T (TTN-AS1)
XM_011511729.1:c.93905T>A (TTN) XP_011510031.1:p.Val31302Asp
XM_011511730.1:c.67799T>A (TTN) XP_011510032.1:p.Val22600Asp
XM_011511731.1:c.67658T>A (TTN) XP_011510033.1:p.Val22553Asp
XM_017004819.1:c.93701T>A (TTN) XP_016860308.1:p.Val31234Asp
XM_017004820.1:c.89099T>A (TTN) XP_016860309.1:p.Val29700Asp
XM_017004821.1:c.89096T>A (TTN) XP_016860310.1:p.Val29699Asp
XM_017004822.1:c.86138T>A (TTN) XP_016860311.1:p.Val28713Asp
XM_017004823.1:c.67754T>A (TTN) XP_016860312.1:p.Val22585Asp
XM_024453094.1:c.89249T>A (TTN) XP_024308862.1:p.Val29750Asp
XM_024453095.1:c.89246T>A (TTN) XP_024308863.1:p.Val29749Asp
XM_024453096.1:c.88679T>A (TTN) XP_024308864.1:p.Val29560Asp
XM_024453097.1:c.86021T>A (TTN) XP_024308865.1:p.Val28674Asp
XM_024453098.1:c.85940T>A (TTN) XP_024308866.1:p.Val28647Asp
XM_024453099.1:c.67703T>A (TTN) XP_024308867.1:p.Val22568Asp
XM_024453100.1:c.57557T>A (TTN) XP_024308868.1:p.Val19186Asp