Canonical Allele Identifier: CA349457038

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544395A>T , CM000664.2:g.178544395A>T GRCh38
NC_000002.11:g.179409122A>T , CM000664.1:g.179409122A>T GRCh37
NC_000002.10:g.179117368A>T NCBI36
NG_011618.3:g.291408T>A , LRG_391:g.291408T>A
NG_051363.1:g.26569A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88130T>A (TTN) ENSP00000343764.6:p.Val29377Asp
ENST00000342175.11:c.69215T>A (TTN) ENSP00000340554.6:p.Val23072Asp
ENST00000359218.10:c.69014T>A (TTN) ENSP00000352154.5:p.Val23005Asp
ENST00000342175.10:c.69215T>A (TTN) ENSP00000340554.6:p.Val23072Asp
ENST00000342992.10:c.88130T>A (TTN) ENSP00000343764.6:p.Val29377Asp
ENST00000359218.9:c.69014T>A (TTN) ENSP00000352154.5:p.Val23005Asp
ENST00000460472.6:c.68639T>A (TTN) ENSP00000434586.1:p.Val22880Asp
ENST00000589042.5:c.95834T>A (TTN) MANE Select ENSP00000467141.1:p.Val31945Asp
ENST00000591111.5:c.90911T>A (TTN) ENSP00000465570.1:p.Val30304Asp
ENST00000615779.4:c.90911T>A (TTN) ENSP00000483597.1:p.Val30304Asp
NM_001256850.1:c.90911T>A (TTN) NP_001243779.1:p.Val30304Asp
NM_001267550.2:c.95834T>A (TTN) MANE Select NP_001254479.2:p.Val31945Asp
NM_003319.4:c.68639T>A (TTN) NP_003310.4:p.Val22880Asp
NM_133378.4:c.88130T>A (TTN) NP_596869.4:p.Val29377Asp
NM_133432.3:c.69014T>A (TTN) NP_597676.3:p.Val23005Asp
NM_133437.4:c.69215T>A (TTN) NP_597681.4:p.Val23072Asp
NR_038271.1:n.446+20759A>T (TTN-AS1)
NR_038272.1:n.2043+2034A>T (TTN-AS1)
XM_011511729.1:c.94931T>A (TTN) XP_011510031.1:p.Val31644Asp
XM_011511730.1:c.68825T>A (TTN) XP_011510032.1:p.Val22942Asp
XM_011511731.1:c.68684T>A (TTN) XP_011510033.1:p.Val22895Asp
XM_017004819.1:c.94727T>A (TTN) XP_016860308.1:p.Val31576Asp
XM_017004820.1:c.90125T>A (TTN) XP_016860309.1:p.Val30042Asp
XM_017004821.1:c.90122T>A (TTN) XP_016860310.1:p.Val30041Asp
XM_017004822.1:c.87164T>A (TTN) XP_016860311.1:p.Val29055Asp
XM_017004823.1:c.68780T>A (TTN) XP_016860312.1:p.Val22927Asp
XM_024453094.1:c.90275T>A (TTN) XP_024308862.1:p.Val30092Asp
XM_024453095.1:c.90272T>A (TTN) XP_024308863.1:p.Val30091Asp
XM_024453096.1:c.89705T>A (TTN) XP_024308864.1:p.Val29902Asp
XM_024453097.1:c.87047T>A (TTN) XP_024308865.1:p.Val29016Asp
XM_024453098.1:c.86966T>A (TTN) XP_024308866.1:p.Val28989Asp
XM_024453099.1:c.68729T>A (TTN) XP_024308867.1:p.Val22910Asp
XM_024453100.1:c.58583T>A (TTN) XP_024308868.1:p.Val19528Asp