Canonical Allele Identifier: CA349519146
Community Standard Title: NM_001267550.2(TTN):c.89342G>A (p.Trp29781Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553663C>T , CM000664.2:g.178553663C>T GRCh38
NC_000002.11:g.179418390C>T , CM000664.1:g.179418390C>T GRCh37
NC_000002.10:g.179126636C>T NCBI36
NG_011618.3:g.282140G>A , LRG_391:g.282140G>A
NG_051363.1:g.35837C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89342G>A (TTN) MANE Select NP_001254479.2:p.Trp29781Ter
ENST00000589042.5:c.89342G>A (TTN) MANE Select ENSP00000467141.1:p.Trp29781Ter
NM_001256850.1:c.84419G>A (TTN) NP_001243779.1:p.Trp28140Ter
NM_003319.4:c.62147G>A (TTN) NP_003310.4:p.Trp20716Ter
NM_133378.4:c.81638G>A (TTN) NP_596869.4:p.Trp27213Ter
NM_133432.3:c.62522G>A (TTN) NP_597676.3:p.Trp20841Ter
NM_133437.4:c.62723G>A (TTN) NP_597681.4:p.Trp20908Ter
NR_038271.1:n.447-17637C>T (TTN-AS1)
NR_038272.1:n.2043+11302C>T (TTN-AS1)
ENST00000342175.10:c.62723G>A (TTN) ENSP00000340554.6:p.Trp20908Ter
ENST00000342175.11:c.62723G>A (TTN) ENSP00000340554.6:p.Trp20908Ter
ENST00000342992.10:c.81638G>A (TTN) ENSP00000343764.6:p.Trp27213Ter
ENST00000342992.11:c.81638G>A (TTN) ENSP00000343764.6:p.Trp27213Ter
ENST00000359218.10:c.62522G>A (TTN) ENSP00000352154.5:p.Trp20841Ter
ENST00000359218.9:c.62522G>A (TTN) ENSP00000352154.5:p.Trp20841Ter
ENST00000460472.6:c.62147G>A (TTN) ENSP00000434586.1:p.Trp20716Ter
ENST00000591111.5:c.84419G>A (TTN) ENSP00000465570.1:p.Trp28140Ter
ENST00000615779.4:c.84419G>A (TTN) ENSP00000483597.1:p.Trp28140Ter
XM_011511729.1:c.88439G>A (TTN) XP_011510031.1:p.Trp29480Ter
XM_011511730.1:c.62333G>A (TTN) XP_011510032.1:p.Trp20778Ter
XM_011511731.1:c.62192G>A (TTN) XP_011510033.1:p.Trp20731Ter
XM_017004819.1:c.88235G>A (TTN) XP_016860308.1:p.Trp29412Ter
XM_017004820.1:c.83633G>A (TTN) XP_016860309.1:p.Trp27878Ter
XM_017004821.1:c.83630G>A (TTN) XP_016860310.1:p.Trp27877Ter
XM_017004822.1:c.80672G>A (TTN) XP_016860311.1:p.Trp26891Ter
XM_017004823.1:c.62288G>A (TTN) XP_016860312.1:p.Trp20763Ter
XM_024453094.1:c.83783G>A (TTN) XP_024308862.1:p.Trp27928Ter
XM_024453095.1:c.83780G>A (TTN) XP_024308863.1:p.Trp27927Ter
XM_024453096.1:c.83213G>A (TTN) XP_024308864.1:p.Trp27738Ter
XM_024453097.1:c.80555G>A (TTN) XP_024308865.1:p.Trp26852Ter
XM_024453098.1:c.80474G>A (TTN) XP_024308866.1:p.Trp26825Ter
XM_024453099.1:c.62237G>A (TTN) XP_024308867.1:p.Trp20746Ter
XM_024453100.1:c.52091G>A (TTN) XP_024308868.1:p.Trp17364Ter