Canonical Allele Identifier: CA349598018
Community Standard Title: NM_001267550.2(TTN):c.79298G>A (p.Trp26433Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566834C>T , CM000664.2:g.178566834C>T GRCh38
NC_000002.11:g.179431561C>T , CM000664.1:g.179431561C>T GRCh37
NC_000002.10:g.179139807C>T NCBI36
NG_011618.3:g.268969G>A , LRG_391:g.268969G>A
NG_051363.1:g.49008C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79298G>A (TTN) MANE Select NP_001254479.2:p.Trp26433Ter
ENST00000589042.5:c.79298G>A (TTN) MANE Select ENSP00000467141.1:p.Trp26433Ter
NM_001256850.1:c.74375G>A (TTN) NP_001243779.1:p.Trp24792Ter
NM_003319.4:c.52103G>A (TTN) NP_003310.4:p.Trp17368Ter
NM_133378.4:c.71594G>A (TTN) NP_596869.4:p.Trp23865Ter
NM_133432.3:c.52478G>A (TTN) NP_597676.3:p.Trp17493Ter
NM_133437.4:c.52679G>A (TTN) NP_597681.4:p.Trp17560Ter
NR_038271.1:n.447-4466C>T (TTN-AS1)
NR_038272.1:n.2044-15738C>T (TTN-AS1)
ENST00000342175.10:c.52679G>A (TTN) ENSP00000340554.6:p.Trp17560Ter
ENST00000342175.11:c.52679G>A (TTN) ENSP00000340554.6:p.Trp17560Ter
ENST00000342992.10:c.71594G>A (TTN) ENSP00000343764.6:p.Trp23865Ter
ENST00000342992.11:c.71594G>A (TTN) ENSP00000343764.6:p.Trp23865Ter
ENST00000359218.10:c.52478G>A (TTN) ENSP00000352154.5:p.Trp17493Ter
ENST00000359218.9:c.52478G>A (TTN) ENSP00000352154.5:p.Trp17493Ter
ENST00000460472.6:c.52103G>A (TTN) ENSP00000434586.1:p.Trp17368Ter
ENST00000591111.5:c.74375G>A (TTN) ENSP00000465570.1:p.Trp24792Ter
ENST00000615779.4:c.74375G>A (TTN) ENSP00000483597.1:p.Trp24792Ter
XM_011511729.1:c.78395G>A (TTN) XP_011510031.1:p.Trp26132Ter
XM_011511730.1:c.52289G>A (TTN) XP_011510032.1:p.Trp17430Ter
XM_011511731.1:c.52148G>A (TTN) XP_011510033.1:p.Trp17383Ter
XM_017004819.1:c.78191G>A (TTN) XP_016860308.1:p.Trp26064Ter
XM_017004820.1:c.73589G>A (TTN) XP_016860309.1:p.Trp24530Ter
XM_017004821.1:c.73586G>A (TTN) XP_016860310.1:p.Trp24529Ter
XM_017004822.1:c.70628G>A (TTN) XP_016860311.1:p.Trp23543Ter
XM_017004823.1:c.52244G>A (TTN) XP_016860312.1:p.Trp17415Ter
XM_024453094.1:c.73739G>A (TTN) XP_024308862.1:p.Trp24580Ter
XM_024453095.1:c.73736G>A (TTN) XP_024308863.1:p.Trp24579Ter
XM_024453096.1:c.73169G>A (TTN) XP_024308864.1:p.Trp24390Ter
XM_024453097.1:c.70511G>A (TTN) XP_024308865.1:p.Trp23504Ter
XM_024453098.1:c.70430G>A (TTN) XP_024308866.1:p.Trp23477Ter
XM_024453099.1:c.52193G>A (TTN) XP_024308867.1:p.Trp17398Ter
XM_024453100.1:c.42047G>A (TTN) XP_024308868.1:p.Trp14016Ter