Canonical Allele Identifier: CA2662126090

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546553C>T , CM000664.2:g.178546553C>T GRCh38
NC_000002.11:g.179411280C>T , CM000664.1:g.179411280C>T GRCh37
NC_000002.10:g.179119526C>T NCBI36
NG_011618.3:g.289250G>A , LRG_391:g.289250G>A
NG_051363.1:g.28727C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87124+47G>A (TTN) ENSP00000343764.6:n.87124+47G>A
ENST00000342175.11:c.68209+47G>A (TTN) ENSP00000340554.6:n.68209+47G>A
ENST00000359218.10:c.68008+47G>A (TTN) ENSP00000352154.5:n.68008+47G>A
ENST00000342175.10:c.68209+47G>A (TTN) ENSP00000340554.6:n.68209+47G>A
ENST00000342992.10:c.87124+47G>A (TTN) ENSP00000343764.6:n.87124+47G>A
ENST00000359218.9:c.68008+47G>A (TTN) ENSP00000352154.5:n.68008+47G>A
ENST00000460472.6:c.67633+47G>A (TTN) ENSP00000434586.1:n.67633+47G>A
ENST00000589042.5:c.94828+47G>A (TTN) MANE Select ENSP00000467141.1:n.94828+47G>A
ENST00000591111.5:c.89905+47G>A (TTN) ENSP00000465570.1:n.89905+47G>A
ENST00000615779.4:c.89905+47G>A (TTN) ENSP00000483597.1:n.89905+47G>A
NM_001256850.1:c.89905+47G>A (TTN) NP_001243779.1:n.89905+47G>A
NM_001267550.2:c.94828+47G>A (TTN) MANE Select NP_001254479.2:n.94828+47G>A
NM_003319.4:c.67633+47G>A (TTN) NP_003310.4:n.67633+47G>A
NM_133378.4:c.87124+47G>A (TTN) NP_596869.4:n.87124+47G>A
NM_133432.3:c.68008+47G>A (TTN) NP_597676.3:n.68008+47G>A
NM_133437.4:c.68209+47G>A (TTN) NP_597681.4:n.68209+47G>A
NR_038271.1:n.446+22917C>T (TTN-AS1)
NR_038272.1:n.2043+4192C>T (TTN-AS1)
XM_011511729.1:c.93925+47G>A (TTN) XP_011510031.1:n.93925+47G>A
XM_011511730.1:c.67819+47G>A (TTN) XP_011510032.1:n.67819+47G>A
XM_011511731.1:c.67678+47G>A (TTN) XP_011510033.1:n.67678+47G>A
XM_017004819.1:c.93721+47G>A (TTN) XP_016860308.1:n.93721+47G>A
XM_017004820.1:c.89119+47G>A (TTN) XP_016860309.1:n.89119+47G>A
XM_017004821.1:c.89116+47G>A (TTN) XP_016860310.1:n.89116+47G>A
XM_017004822.1:c.86158+47G>A (TTN) XP_016860311.1:n.86158+47G>A
XM_017004823.1:c.67774+47G>A (TTN) XP_016860312.1:n.67774+47G>A
XM_024453094.1:c.89269+47G>A (TTN) XP_024308862.1:n.89269+47G>A
XM_024453095.1:c.89266+47G>A (TTN) XP_024308863.1:n.89266+47G>A
XM_024453096.1:c.88699+47G>A (TTN) XP_024308864.1:n.88699+47G>A
XM_024453097.1:c.86041+47G>A (TTN) XP_024308865.1:n.86041+47G>A
XM_024453098.1:c.85960+47G>A (TTN) XP_024308866.1:n.85960+47G>A
XM_024453099.1:c.67723+47G>A (TTN) XP_024308867.1:n.67723+47G>A
XM_024453100.1:c.57577+47G>A (TTN) XP_024308868.1:n.57577+47G>A