Canonical Allele Identifier: CA349550982
Community Standard Title: NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560419C>T , CM000664.2:g.178560419C>T GRCh38
NC_000002.11:g.179425146C>T , CM000664.1:g.179425146C>T GRCh37
NC_000002.10:g.179133392C>T NCBI36
NG_011618.3:g.275384G>A , LRG_391:g.275384G>A
NG_051363.1:g.42593C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85713G>A (TTN) MANE Select NP_001254479.2:p.Trp28571Ter
ENST00000589042.5:c.85713G>A (TTN) MANE Select ENSP00000467141.1:p.Trp28571Ter
NM_001256850.1:c.80790G>A (TTN) NP_001243779.1:p.Trp26930Ter
NM_003319.4:c.58518G>A (TTN) NP_003310.4:p.Trp19506Ter
NM_133378.4:c.78009G>A (TTN) NP_596869.4:p.Trp26003Ter
NM_133432.3:c.58893G>A (TTN) NP_597676.3:p.Trp19631Ter
NM_133437.4:c.59094G>A (TTN) NP_597681.4:p.Trp19698Ter
NR_038271.1:n.447-10881C>T (TTN-AS1)
NR_038272.1:n.2043+18058C>T (TTN-AS1)
ENST00000342175.10:c.59094G>A (TTN) ENSP00000340554.6:p.Trp19698Ter
ENST00000342175.11:c.59094G>A (TTN) ENSP00000340554.6:p.Trp19698Ter
ENST00000342992.10:c.78009G>A (TTN) ENSP00000343764.6:p.Trp26003Ter
ENST00000342992.11:c.78009G>A (TTN) ENSP00000343764.6:p.Trp26003Ter
ENST00000359218.10:c.58893G>A (TTN) ENSP00000352154.5:p.Trp19631Ter
ENST00000359218.9:c.58893G>A (TTN) ENSP00000352154.5:p.Trp19631Ter
ENST00000460472.6:c.58518G>A (TTN) ENSP00000434586.1:p.Trp19506Ter
ENST00000591111.5:c.80790G>A (TTN) ENSP00000465570.1:p.Trp26930Ter
ENST00000615779.4:c.80790G>A (TTN) ENSP00000483597.1:p.Trp26930Ter
XM_011511729.1:c.84810G>A (TTN) XP_011510031.1:p.Trp28270Ter
XM_011511730.1:c.58704G>A (TTN) XP_011510032.1:p.Trp19568Ter
XM_011511731.1:c.58563G>A (TTN) XP_011510033.1:p.Trp19521Ter
XM_017004819.1:c.84606G>A (TTN) XP_016860308.1:p.Trp28202Ter
XM_017004820.1:c.80004G>A (TTN) XP_016860309.1:p.Trp26668Ter
XM_017004821.1:c.80001G>A (TTN) XP_016860310.1:p.Trp26667Ter
XM_017004822.1:c.77043G>A (TTN) XP_016860311.1:p.Trp25681Ter
XM_017004823.1:c.58659G>A (TTN) XP_016860312.1:p.Trp19553Ter
XM_024453094.1:c.80154G>A (TTN) XP_024308862.1:p.Trp26718Ter
XM_024453095.1:c.80151G>A (TTN) XP_024308863.1:p.Trp26717Ter
XM_024453096.1:c.79584G>A (TTN) XP_024308864.1:p.Trp26528Ter
XM_024453097.1:c.76926G>A (TTN) XP_024308865.1:p.Trp25642Ter
XM_024453098.1:c.76845G>A (TTN) XP_024308866.1:p.Trp25615Ter
XM_024453099.1:c.58608G>A (TTN) XP_024308867.1:p.Trp19536Ter
XM_024453100.1:c.48462G>A (TTN) XP_024308868.1:p.Trp16154Ter