Canonical Allele Identifier: CA349672031

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577890C>T , CM000664.2:g.178577890C>T GRCh38
NC_000002.11:g.179442617C>T , CM000664.1:g.179442617C>T GRCh37
NC_000002.10:g.179150863C>T NCBI36
NG_011618.3:g.257913G>A , LRG_391:g.257913G>A
NG_051363.1:g.60064C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60832G>A (TTN) ENSP00000343764.6:p.Gly20278Arg
ENST00000342175.11:c.41917G>A (TTN) ENSP00000340554.6:p.Gly13973Arg
ENST00000359218.10:c.41716G>A (TTN) ENSP00000352154.5:p.Gly13906Arg
ENST00000342175.10:c.41917G>A (TTN) ENSP00000340554.6:p.Gly13973Arg
ENST00000342992.10:c.60832G>A (TTN) ENSP00000343764.6:p.Gly20278Arg
ENST00000359218.9:c.41716G>A (TTN) ENSP00000352154.5:p.Gly13906Arg
ENST00000460472.6:c.41341G>A (TTN) ENSP00000434586.1:p.Gly13781Arg
ENST00000589042.5:c.68536G>A (TTN) MANE Select ENSP00000467141.1:p.Gly22846Arg
ENST00000591111.5:c.63613G>A (TTN) ENSP00000465570.1:p.Gly21205Arg
ENST00000615779.4:c.63613G>A (TTN) ENSP00000483597.1:p.Gly21205Arg
NM_001256850.1:c.63613G>A (TTN) NP_001243779.1:p.Gly21205Arg
NM_001267550.2:c.68536G>A (TTN) MANE Select NP_001254479.2:p.Gly22846Arg
NM_003319.4:c.41341G>A (TTN) NP_003310.4:p.Gly13781Arg
NM_133378.4:c.60832G>A (TTN) NP_596869.4:p.Gly20278Arg
NM_133432.3:c.41716G>A (TTN) NP_597676.3:p.Gly13906Arg
NM_133437.4:c.41917G>A (TTN) NP_597681.4:p.Gly13973Arg
NR_038271.1:n.596+6441C>T (TTN-AS1)
NR_038272.1:n.2044-4682C>T (TTN-AS1)
XM_011511729.1:c.67633G>A (TTN) XP_011510031.1:p.Gly22545Arg
XM_011511730.1:c.41527G>A (TTN) XP_011510032.1:p.Gly13843Arg
XM_011511731.1:c.41386G>A (TTN) XP_011510033.1:p.Gly13796Arg
XM_017004819.1:c.67429G>A (TTN) XP_016860308.1:p.Gly22477Arg
XM_017004820.1:c.62827G>A (TTN) XP_016860309.1:p.Gly20943Arg
XM_017004821.1:c.62824G>A (TTN) XP_016860310.1:p.Gly20942Arg
XM_017004822.1:c.59866G>A (TTN) XP_016860311.1:p.Gly19956Arg
XM_017004823.1:c.41482G>A (TTN) XP_016860312.1:p.Gly13828Arg
XM_024453094.1:c.62977G>A (TTN) XP_024308862.1:p.Gly20993Arg
XM_024453095.1:c.62974G>A (TTN) XP_024308863.1:p.Gly20992Arg
XM_024453096.1:c.62407G>A (TTN) XP_024308864.1:p.Gly20803Arg
XM_024453097.1:c.59749G>A (TTN) XP_024308865.1:p.Gly19917Arg
XM_024453098.1:c.59668G>A (TTN) XP_024308866.1:p.Gly19890Arg
XM_024453099.1:c.41431G>A (TTN) XP_024308867.1:p.Gly13811Arg
XM_024453100.1:c.31285G>A (TTN) XP_024308868.1:p.Gly10429Arg