Canonical Allele Identifier: CA349423453
Community Standard Title: NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579621C>A , CM000664.2:g.178579621C>A GRCh38
NC_000002.11:g.179444348C>A , CM000664.1:g.179444348C>A GRCh37
NC_000002.10:g.179152594C>A NCBI36
NG_011618.3:g.256182G>T , LRG_391:g.256182G>T
NG_051363.1:g.61795C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67576G>T (TTN) MANE Select NP_001254479.2:p.Glu22526Ter
ENST00000589042.5:c.67576G>T (TTN) MANE Select ENSP00000467141.1:p.Glu22526Ter
NM_001256850.1:c.62653G>T (TTN) NP_001243779.1:p.Glu20885Ter
NM_003319.4:c.40381G>T (TTN) NP_003310.4:p.Glu13461Ter
NM_133378.4:c.59872G>T (TTN) NP_596869.4:p.Glu19958Ter
NM_133432.3:c.40756G>T (TTN) NP_597676.3:p.Glu13586Ter
NM_133437.4:c.40957G>T (TTN) NP_597681.4:p.Glu13653Ter
NR_038271.1:n.596+8172C>A (TTN-AS1)
NR_038272.1:n.2044-2951C>A (TTN-AS1)
ENST00000342175.10:c.40957G>T (TTN) ENSP00000340554.6:p.Glu13653Ter
ENST00000342175.11:c.40957G>T (TTN) ENSP00000340554.6:p.Glu13653Ter
ENST00000342992.10:c.59872G>T (TTN) ENSP00000343764.6:p.Glu19958Ter
ENST00000342992.11:c.59872G>T (TTN) ENSP00000343764.6:p.Glu19958Ter
ENST00000359218.10:c.40756G>T (TTN) ENSP00000352154.5:p.Glu13586Ter
ENST00000359218.9:c.40756G>T (TTN) ENSP00000352154.5:p.Glu13586Ter
ENST00000460472.6:c.40381G>T (TTN) ENSP00000434586.1:p.Glu13461Ter
ENST00000591111.5:c.62653G>T (TTN) ENSP00000465570.1:p.Glu20885Ter
ENST00000615779.4:c.62653G>T (TTN) ENSP00000483597.1:p.Glu20885Ter
XM_011511729.1:c.66673G>T (TTN) XP_011510031.1:p.Glu22225Ter
XM_011511730.1:c.40567G>T (TTN) XP_011510032.1:p.Glu13523Ter
XM_011511731.1:c.40426G>T (TTN) XP_011510033.1:p.Glu13476Ter
XM_017004819.1:c.66469G>T (TTN) XP_016860308.1:p.Glu22157Ter
XM_017004820.1:c.61867G>T (TTN) XP_016860309.1:p.Glu20623Ter
XM_017004821.1:c.61864G>T (TTN) XP_016860310.1:p.Glu20622Ter
XM_017004822.1:c.58906G>T (TTN) XP_016860311.1:p.Glu19636Ter
XM_017004823.1:c.40522G>T (TTN) XP_016860312.1:p.Glu13508Ter
XM_024453094.1:c.62017G>T (TTN) XP_024308862.1:p.Glu20673Ter
XM_024453095.1:c.62014G>T (TTN) XP_024308863.1:p.Glu20672Ter
XM_024453096.1:c.61447G>T (TTN) XP_024308864.1:p.Glu20483Ter
XM_024453097.1:c.58789G>T (TTN) XP_024308865.1:p.Glu19597Ter
XM_024453098.1:c.58708G>T (TTN) XP_024308866.1:p.Glu19570Ter
XM_024453099.1:c.40471G>T (TTN) XP_024308867.1:p.Glu13491Ter
XM_024453100.1:c.30325G>T (TTN) XP_024308868.1:p.Glu10109Ter