Canonical Allele Identifier: CA349527662
Community Standard Title: NM_001267550.2(TTN):c.56715G>A (p.Trp18905Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178598995C>T , CM000664.2:g.178598995C>T GRCh38
NC_000002.11:g.179463722C>T , CM000664.1:g.179463722C>T GRCh37
NC_000002.10:g.179171967C>T NCBI36
NG_011618.3:g.236808G>A , LRG_391:g.236808G>A
NG_051363.1:g.81169C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56715G>A (TTN) MANE Select NP_001254479.2:p.Trp18905Ter
ENST00000589042.5:c.56715G>A (TTN) MANE Select ENSP00000467141.1:p.Trp18905Ter
NM_001256850.1:c.51792G>A (TTN) NP_001243779.1:p.Trp17264Ter
NM_003319.4:c.29520G>A (TTN) NP_003310.4:p.Trp9840Ter
NM_133378.4:c.49011G>A (TTN) NP_596869.4:p.Trp16337Ter
NM_133432.3:c.29895G>A (TTN) NP_597676.3:p.Trp9965Ter
NM_133437.4:c.30096G>A (TTN) NP_597681.4:p.Trp10032Ter
NR_038271.1:n.682+1314C>T (TTN-AS1)
NR_038272.1:n.3568+322C>T (TTN-AS1)
ENST00000342175.10:c.30096G>A (TTN) ENSP00000340554.6:p.Trp10032Ter
ENST00000342175.11:c.30096G>A (TTN) ENSP00000340554.6:p.Trp10032Ter
ENST00000342992.10:c.49011G>A (TTN) ENSP00000343764.6:p.Trp16337Ter
ENST00000342992.11:c.49011G>A (TTN) ENSP00000343764.6:p.Trp16337Ter
ENST00000359218.10:c.29895G>A (TTN) ENSP00000352154.5:p.Trp9965Ter
ENST00000359218.9:c.29895G>A (TTN) ENSP00000352154.5:p.Trp9965Ter
ENST00000460472.6:c.29520G>A (TTN) ENSP00000434586.1:p.Trp9840Ter
ENST00000591111.5:c.51792G>A (TTN) ENSP00000465570.1:p.Trp17264Ter
ENST00000615779.4:c.51792G>A (TTN) ENSP00000483597.1:p.Trp17264Ter
XM_011511729.1:c.55812G>A (TTN) XP_011510031.1:p.Trp18604Ter
XM_011511730.1:c.29706G>A (TTN) XP_011510032.1:p.Trp9902Ter
XM_011511731.1:c.29565G>A (TTN) XP_011510033.1:p.Trp9855Ter
XM_017004819.1:c.55608G>A (TTN) XP_016860308.1:p.Trp18536Ter
XM_017004820.1:c.51006G>A (TTN) XP_016860309.1:p.Trp17002Ter
XM_017004821.1:c.51003G>A (TTN) XP_016860310.1:p.Trp17001Ter
XM_017004822.1:c.48045G>A (TTN) XP_016860311.1:p.Trp16015Ter
XM_017004823.1:c.29661G>A (TTN) XP_016860312.1:p.Trp9887Ter
XM_024453094.1:c.51156G>A (TTN) XP_024308862.1:p.Trp17052Ter
XM_024453095.1:c.51153G>A (TTN) XP_024308863.1:p.Trp17051Ter
XM_024453096.1:c.50586G>A (TTN) XP_024308864.1:p.Trp16862Ter
XM_024453097.1:c.47928G>A (TTN) XP_024308865.1:p.Trp15976Ter
XM_024453098.1:c.47847G>A (TTN) XP_024308866.1:p.Trp15949Ter
XM_024453099.1:c.29610G>A (TTN) XP_024308867.1:p.Trp9870Ter
XM_024453100.1:c.19464G>A (TTN) XP_024308868.1:p.Trp6488Ter