Canonical Allele Identifier: CA349534526
Community Standard Title: NM_001267550.2(TTN):c.87734G>A (p.Trp29245Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557528C>T , CM000664.2:g.178557528C>T GRCh38
NC_000002.11:g.179422255C>T , CM000664.1:g.179422255C>T GRCh37
NC_000002.10:g.179130501C>T NCBI36
NG_011618.3:g.278275G>A , LRG_391:g.278275G>A
NG_051363.1:g.39702C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.87734G>A (TTN) MANE Select NP_001254479.2:p.Trp29245Ter
ENST00000589042.5:c.87734G>A (TTN) MANE Select ENSP00000467141.1:p.Trp29245Ter
NM_001256850.1:c.82811G>A (TTN) NP_001243779.1:p.Trp27604Ter
NM_003319.4:c.60539G>A (TTN) NP_003310.4:p.Trp20180Ter
NM_133378.4:c.80030G>A (TTN) NP_596869.4:p.Trp26677Ter
NM_133432.3:c.60914G>A (TTN) NP_597676.3:p.Trp20305Ter
NM_133437.4:c.61115G>A (TTN) NP_597681.4:p.Trp20372Ter
NR_038271.1:n.447-13772C>T (TTN-AS1)
NR_038272.1:n.2043+15167C>T (TTN-AS1)
ENST00000342175.10:c.61115G>A (TTN) ENSP00000340554.6:p.Trp20372Ter
ENST00000342175.11:c.61115G>A (TTN) ENSP00000340554.6:p.Trp20372Ter
ENST00000342992.10:c.80030G>A (TTN) ENSP00000343764.6:p.Trp26677Ter
ENST00000342992.11:c.80030G>A (TTN) ENSP00000343764.6:p.Trp26677Ter
ENST00000359218.10:c.60914G>A (TTN) ENSP00000352154.5:p.Trp20305Ter
ENST00000359218.9:c.60914G>A (TTN) ENSP00000352154.5:p.Trp20305Ter
ENST00000460472.6:c.60539G>A (TTN) ENSP00000434586.1:p.Trp20180Ter
ENST00000591111.5:c.82811G>A (TTN) ENSP00000465570.1:p.Trp27604Ter
ENST00000615779.4:c.82811G>A (TTN) ENSP00000483597.1:p.Trp27604Ter
XM_011511729.1:c.86831G>A (TTN) XP_011510031.1:p.Trp28944Ter
XM_011511730.1:c.60725G>A (TTN) XP_011510032.1:p.Trp20242Ter
XM_011511731.1:c.60584G>A (TTN) XP_011510033.1:p.Trp20195Ter
XM_017004819.1:c.86627G>A (TTN) XP_016860308.1:p.Trp28876Ter
XM_017004820.1:c.82025G>A (TTN) XP_016860309.1:p.Trp27342Ter
XM_017004821.1:c.82022G>A (TTN) XP_016860310.1:p.Trp27341Ter
XM_017004822.1:c.79064G>A (TTN) XP_016860311.1:p.Trp26355Ter
XM_017004823.1:c.60680G>A (TTN) XP_016860312.1:p.Trp20227Ter
XM_024453094.1:c.82175G>A (TTN) XP_024308862.1:p.Trp27392Ter
XM_024453095.1:c.82172G>A (TTN) XP_024308863.1:p.Trp27391Ter
XM_024453096.1:c.81605G>A (TTN) XP_024308864.1:p.Trp27202Ter
XM_024453097.1:c.78947G>A (TTN) XP_024308865.1:p.Trp26316Ter
XM_024453098.1:c.78866G>A (TTN) XP_024308866.1:p.Trp26289Ter
XM_024453099.1:c.60629G>A (TTN) XP_024308867.1:p.Trp20210Ter
XM_024453100.1:c.50483G>A (TTN) XP_024308868.1:p.Trp16828Ter