Canonical Allele Identifier: CA1310520141

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549854A= , CM000664.2:g.178549854A= GRCh38
NC_000002.11:g.179414581A= , CM000664.1:g.179414581A= GRCh37
NC_000002.10:g.179122827A= NCBI36
NG_011618.3:g.285949T= , LRG_391:g.285949T=
NG_051363.1:g.32028A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84164T= (TTN) ENSP00000343764.6:p.Val28055=
ENST00000342175.11:c.65249T= (TTN) ENSP00000340554.6:p.Val21750=
ENST00000359218.10:c.65048T= (TTN) ENSP00000352154.5:p.Val21683=
ENST00000342175.10:c.65249T= (TTN) ENSP00000340554.6:p.Val21750=
ENST00000342992.10:c.84164T= (TTN) ENSP00000343764.6:p.Val28055=
ENST00000359218.9:c.65048T= (TTN) ENSP00000352154.5:p.Val21683=
ENST00000460472.6:c.64673T= (TTN) ENSP00000434586.1:p.Val21558=
ENST00000589042.5:c.91868T= (TTN) MANE Select ENSP00000467141.1:p.Val30623=
ENST00000591111.5:c.86945T= (TTN) ENSP00000465570.1:p.Val28982=
ENST00000615779.4:c.86945T= (TTN) ENSP00000483597.1:p.Val28982=
NM_001256850.1:c.86945T= (TTN) NP_001243779.1:p.Val28982=
NM_001267550.2:c.91868T= (TTN) MANE Select NP_001254479.2:p.Val30623=
NM_003319.4:c.64673T= (TTN) NP_003310.4:p.Val21558=
NM_133378.4:c.84164T= (TTN) NP_596869.4:p.Val28055=
NM_133432.3:c.65048T= (TTN) NP_597676.3:p.Val21683=
NM_133437.4:c.65249T= (TTN) NP_597681.4:p.Val21750=
NR_038271.1:n.447-21446A= (TTN-AS1)
NR_038272.1:n.2043+7493A= (TTN-AS1)
XM_011511729.1:c.90965T= (TTN) XP_011510031.1:p.Val30322=
XM_011511730.1:c.64859T= (TTN) XP_011510032.1:p.Val21620=
XM_011511731.1:c.64718T= (TTN) XP_011510033.1:p.Val21573=
XM_017004819.1:c.90761T= (TTN) XP_016860308.1:p.Val30254=
XM_017004820.1:c.86159T= (TTN) XP_016860309.1:p.Val28720=
XM_017004821.1:c.86156T= (TTN) XP_016860310.1:p.Val28719=
XM_017004822.1:c.83198T= (TTN) XP_016860311.1:p.Val27733=
XM_017004823.1:c.64814T= (TTN) XP_016860312.1:p.Val21605=
XM_024453094.1:c.86309T= (TTN) XP_024308862.1:p.Val28770=
XM_024453095.1:c.86306T= (TTN) XP_024308863.1:p.Val28769=
XM_024453096.1:c.85739T= (TTN) XP_024308864.1:p.Val28580=
XM_024453097.1:c.83081T= (TTN) XP_024308865.1:p.Val27694=
XM_024453098.1:c.83000T= (TTN) XP_024308866.1:p.Val27667=
XM_024453099.1:c.64763T= (TTN) XP_024308867.1:p.Val21588=
XM_024453100.1:c.54617T= (TTN) XP_024308868.1:p.Val18206=