Canonical Allele Identifier: CA349532395
Community Standard Title: NM_001267550.2(TTN):c.56401C>T (p.Gln18801Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599392G>A , CM000664.2:g.178599392G>A GRCh38
NC_000002.11:g.179464119G>A , CM000664.1:g.179464119G>A GRCh37
NC_000002.10:g.179172364G>A NCBI36
NG_011618.3:g.236411C>T , LRG_391:g.236411C>T
NG_051363.1:g.81566G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56401C>T (TTN) MANE Select NP_001254479.2:p.Gln18801Ter
ENST00000589042.5:c.56401C>T (TTN) MANE Select ENSP00000467141.1:p.Gln18801Ter
NM_001256850.1:c.51478C>T (TTN) NP_001243779.1:p.Gln17160Ter
NM_003319.4:c.29206C>T (TTN) NP_003310.4:p.Gln9736Ter
NM_133378.4:c.48697C>T (TTN) NP_596869.4:p.Gln16233Ter
NM_133432.3:c.29581C>T (TTN) NP_597676.3:p.Gln9861Ter
NM_133437.4:c.29782C>T (TTN) NP_597681.4:p.Gln9928Ter
NR_038271.1:n.682+1711G>A (TTN-AS1)
NR_038272.1:n.3569-202G>A (TTN-AS1)
ENST00000342175.10:c.29782C>T (TTN) ENSP00000340554.6:p.Gln9928Ter
ENST00000342175.11:c.29782C>T (TTN) ENSP00000340554.6:p.Gln9928Ter
ENST00000342992.10:c.48697C>T (TTN) ENSP00000343764.6:p.Gln16233Ter
ENST00000342992.11:c.48697C>T (TTN) ENSP00000343764.6:p.Gln16233Ter
ENST00000359218.10:c.29581C>T (TTN) ENSP00000352154.5:p.Gln9861Ter
ENST00000359218.9:c.29581C>T (TTN) ENSP00000352154.5:p.Gln9861Ter
ENST00000460472.6:c.29206C>T (TTN) ENSP00000434586.1:p.Gln9736Ter
ENST00000591111.5:c.51478C>T (TTN) ENSP00000465570.1:p.Gln17160Ter
ENST00000615779.4:c.51478C>T (TTN) ENSP00000483597.1:p.Gln17160Ter
XM_011511729.1:c.55498C>T (TTN) XP_011510031.1:p.Gln18500Ter
XM_011511730.1:c.29392C>T (TTN) XP_011510032.1:p.Gln9798Ter
XM_011511731.1:c.29251C>T (TTN) XP_011510033.1:p.Gln9751Ter
XM_017004819.1:c.55294C>T (TTN) XP_016860308.1:p.Gln18432Ter
XM_017004820.1:c.50692C>T (TTN) XP_016860309.1:p.Gln16898Ter
XM_017004821.1:c.50689C>T (TTN) XP_016860310.1:p.Gln16897Ter
XM_017004822.1:c.47731C>T (TTN) XP_016860311.1:p.Gln15911Ter
XM_017004823.1:c.29347C>T (TTN) XP_016860312.1:p.Gln9783Ter
XM_024453094.1:c.50842C>T (TTN) XP_024308862.1:p.Gln16948Ter
XM_024453095.1:c.50839C>T (TTN) XP_024308863.1:p.Gln16947Ter
XM_024453096.1:c.50272C>T (TTN) XP_024308864.1:p.Gln16758Ter
XM_024453097.1:c.47614C>T (TTN) XP_024308865.1:p.Gln15872Ter
XM_024453098.1:c.47533C>T (TTN) XP_024308866.1:p.Gln15845Ter
XM_024453099.1:c.29296C>T (TTN) XP_024308867.1:p.Gln9766Ter
XM_024453100.1:c.19150C>T (TTN) XP_024308868.1:p.Gln6384Ter