Canonical Allele Identifier: CA349646542
Community Standard Title: NM_001267550.2(TTN):c.72574G>T (p.Glu24192Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573558C>A , CM000664.2:g.178573558C>A GRCh38
NC_000002.11:g.179438285C>A , CM000664.1:g.179438285C>A GRCh37
NC_000002.10:g.179146531C>A NCBI36
NG_011618.3:g.262245G>T , LRG_391:g.262245G>T
NG_051363.1:g.55732C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.72574G>T (TTN) MANE Select NP_001254479.2:p.Glu24192Ter
ENST00000589042.5:c.72574G>T (TTN) MANE Select ENSP00000467141.1:p.Glu24192Ter
NM_001256850.1:c.67651G>T (TTN) NP_001243779.1:p.Glu22551Ter
NM_003319.4:c.45379G>T (TTN) NP_003310.4:p.Glu15127Ter
NM_133378.4:c.64870G>T (TTN) NP_596869.4:p.Glu21624Ter
NM_133432.3:c.45754G>T (TTN) NP_597676.3:p.Glu15252Ter
NM_133437.4:c.45955G>T (TTN) NP_597681.4:p.Glu15319Ter
NR_038271.1:n.596+2109C>A (TTN-AS1)
NR_038272.1:n.2044-9014C>A (TTN-AS1)
ENST00000342175.10:c.45955G>T (TTN) ENSP00000340554.6:p.Glu15319Ter
ENST00000342175.11:c.45955G>T (TTN) ENSP00000340554.6:p.Glu15319Ter
ENST00000342992.10:c.64870G>T (TTN) ENSP00000343764.6:p.Glu21624Ter
ENST00000342992.11:c.64870G>T (TTN) ENSP00000343764.6:p.Glu21624Ter
ENST00000359218.10:c.45754G>T (TTN) ENSP00000352154.5:p.Glu15252Ter
ENST00000359218.9:c.45754G>T (TTN) ENSP00000352154.5:p.Glu15252Ter
ENST00000460472.6:c.45379G>T (TTN) ENSP00000434586.1:p.Glu15127Ter
ENST00000591111.5:c.67651G>T (TTN) ENSP00000465570.1:p.Glu22551Ter
ENST00000615779.4:c.67651G>T (TTN) ENSP00000483597.1:p.Glu22551Ter
XM_011511729.1:c.71671G>T (TTN) XP_011510031.1:p.Glu23891Ter
XM_011511730.1:c.45565G>T (TTN) XP_011510032.1:p.Glu15189Ter
XM_011511731.1:c.45424G>T (TTN) XP_011510033.1:p.Glu15142Ter
XM_017004819.1:c.71467G>T (TTN) XP_016860308.1:p.Glu23823Ter
XM_017004820.1:c.66865G>T (TTN) XP_016860309.1:p.Glu22289Ter
XM_017004821.1:c.66862G>T (TTN) XP_016860310.1:p.Glu22288Ter
XM_017004822.1:c.63904G>T (TTN) XP_016860311.1:p.Glu21302Ter
XM_017004823.1:c.45520G>T (TTN) XP_016860312.1:p.Glu15174Ter
XM_024453094.1:c.67015G>T (TTN) XP_024308862.1:p.Glu22339Ter
XM_024453095.1:c.67012G>T (TTN) XP_024308863.1:p.Glu22338Ter
XM_024453096.1:c.66445G>T (TTN) XP_024308864.1:p.Glu22149Ter
XM_024453097.1:c.63787G>T (TTN) XP_024308865.1:p.Glu21263Ter
XM_024453098.1:c.63706G>T (TTN) XP_024308866.1:p.Glu21236Ter
XM_024453099.1:c.45469G>T (TTN) XP_024308867.1:p.Glu15157Ter
XM_024453100.1:c.35323G>T (TTN) XP_024308868.1:p.Glu11775Ter