Canonical Allele Identifier: CA349542723
Community Standard Title: NM_001267550.2(TTN):c.86597G>A (p.Trp28866Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559535C>T , CM000664.2:g.178559535C>T GRCh38
NC_000002.11:g.179424262C>T , CM000664.1:g.179424262C>T GRCh37
NC_000002.10:g.179132508C>T NCBI36
NG_011618.3:g.276268G>A , LRG_391:g.276268G>A
NG_051363.1:g.41709C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86597G>A (TTN) MANE Select NP_001254479.2:p.Trp28866Ter
ENST00000589042.5:c.86597G>A (TTN) MANE Select ENSP00000467141.1:p.Trp28866Ter
NM_001256850.1:c.81674G>A (TTN) NP_001243779.1:p.Trp27225Ter
NM_003319.4:c.59402G>A (TTN) NP_003310.4:p.Trp19801Ter
NM_133378.4:c.78893G>A (TTN) NP_596869.4:p.Trp26298Ter
NM_133432.3:c.59777G>A (TTN) NP_597676.3:p.Trp19926Ter
NM_133437.4:c.59978G>A (TTN) NP_597681.4:p.Trp19993Ter
NR_038271.1:n.447-11765C>T (TTN-AS1)
NR_038272.1:n.2043+17174C>T (TTN-AS1)
ENST00000342175.10:c.59978G>A (TTN) ENSP00000340554.6:p.Trp19993Ter
ENST00000342175.11:c.59978G>A (TTN) ENSP00000340554.6:p.Trp19993Ter
ENST00000342992.10:c.78893G>A (TTN) ENSP00000343764.6:p.Trp26298Ter
ENST00000342992.11:c.78893G>A (TTN) ENSP00000343764.6:p.Trp26298Ter
ENST00000359218.10:c.59777G>A (TTN) ENSP00000352154.5:p.Trp19926Ter
ENST00000359218.9:c.59777G>A (TTN) ENSP00000352154.5:p.Trp19926Ter
ENST00000460472.6:c.59402G>A (TTN) ENSP00000434586.1:p.Trp19801Ter
ENST00000591111.5:c.81674G>A (TTN) ENSP00000465570.1:p.Trp27225Ter
ENST00000615779.4:c.81674G>A (TTN) ENSP00000483597.1:p.Trp27225Ter
XM_011511729.1:c.85694G>A (TTN) XP_011510031.1:p.Trp28565Ter
XM_011511730.1:c.59588G>A (TTN) XP_011510032.1:p.Trp19863Ter
XM_011511731.1:c.59447G>A (TTN) XP_011510033.1:p.Trp19816Ter
XM_017004819.1:c.85490G>A (TTN) XP_016860308.1:p.Trp28497Ter
XM_017004820.1:c.80888G>A (TTN) XP_016860309.1:p.Trp26963Ter
XM_017004821.1:c.80885G>A (TTN) XP_016860310.1:p.Trp26962Ter
XM_017004822.1:c.77927G>A (TTN) XP_016860311.1:p.Trp25976Ter
XM_017004823.1:c.59543G>A (TTN) XP_016860312.1:p.Trp19848Ter
XM_024453094.1:c.81038G>A (TTN) XP_024308862.1:p.Trp27013Ter
XM_024453095.1:c.81035G>A (TTN) XP_024308863.1:p.Trp27012Ter
XM_024453096.1:c.80468G>A (TTN) XP_024308864.1:p.Trp26823Ter
XM_024453097.1:c.77810G>A (TTN) XP_024308865.1:p.Trp25937Ter
XM_024453098.1:c.77729G>A (TTN) XP_024308866.1:p.Trp25910Ter
XM_024453099.1:c.59492G>A (TTN) XP_024308867.1:p.Trp19831Ter
XM_024453100.1:c.49346G>A (TTN) XP_024308868.1:p.Trp16449Ter