Canonical Allele Identifier: CA349615782
Community Standard Title: NM_001267550.2(TTN):c.76355G>A (p.Trp25452Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569777C>T , CM000664.2:g.178569777C>T GRCh38
NC_000002.11:g.179434504C>T , CM000664.1:g.179434504C>T GRCh37
NC_000002.10:g.179142750C>T NCBI36
NG_011618.3:g.266026G>A , LRG_391:g.266026G>A
NG_051363.1:g.51951C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.76355G>A (TTN) MANE Select NP_001254479.2:p.Trp25452Ter
ENST00000589042.5:c.76355G>A (TTN) MANE Select ENSP00000467141.1:p.Trp25452Ter
NM_001256850.1:c.71432G>A (TTN) NP_001243779.1:p.Trp23811Ter
NM_003319.4:c.49160G>A (TTN) NP_003310.4:p.Trp16387Ter
NM_133378.4:c.68651G>A (TTN) NP_596869.4:p.Trp22884Ter
NM_133432.3:c.49535G>A (TTN) NP_597676.3:p.Trp16512Ter
NM_133437.4:c.49736G>A (TTN) NP_597681.4:p.Trp16579Ter
NR_038271.1:n.447-1523C>T (TTN-AS1)
NR_038272.1:n.2044-12795C>T (TTN-AS1)
ENST00000342175.10:c.49736G>A (TTN) ENSP00000340554.6:p.Trp16579Ter
ENST00000342175.11:c.49736G>A (TTN) ENSP00000340554.6:p.Trp16579Ter
ENST00000342992.10:c.68651G>A (TTN) ENSP00000343764.6:p.Trp22884Ter
ENST00000342992.11:c.68651G>A (TTN) ENSP00000343764.6:p.Trp22884Ter
ENST00000359218.10:c.49535G>A (TTN) ENSP00000352154.5:p.Trp16512Ter
ENST00000359218.9:c.49535G>A (TTN) ENSP00000352154.5:p.Trp16512Ter
ENST00000460472.6:c.49160G>A (TTN) ENSP00000434586.1:p.Trp16387Ter
ENST00000591111.5:c.71432G>A (TTN) ENSP00000465570.1:p.Trp23811Ter
ENST00000615779.4:c.71432G>A (TTN) ENSP00000483597.1:p.Trp23811Ter
XM_011511729.1:c.75452G>A (TTN) XP_011510031.1:p.Trp25151Ter
XM_011511730.1:c.49346G>A (TTN) XP_011510032.1:p.Trp16449Ter
XM_011511731.1:c.49205G>A (TTN) XP_011510033.1:p.Trp16402Ter
XM_017004819.1:c.75248G>A (TTN) XP_016860308.1:p.Trp25083Ter
XM_017004820.1:c.70646G>A (TTN) XP_016860309.1:p.Trp23549Ter
XM_017004821.1:c.70643G>A (TTN) XP_016860310.1:p.Trp23548Ter
XM_017004822.1:c.67685G>A (TTN) XP_016860311.1:p.Trp22562Ter
XM_017004823.1:c.49301G>A (TTN) XP_016860312.1:p.Trp16434Ter
XM_024453094.1:c.70796G>A (TTN) XP_024308862.1:p.Trp23599Ter
XM_024453095.1:c.70793G>A (TTN) XP_024308863.1:p.Trp23598Ter
XM_024453096.1:c.70226G>A (TTN) XP_024308864.1:p.Trp23409Ter
XM_024453097.1:c.67568G>A (TTN) XP_024308865.1:p.Trp22523Ter
XM_024453098.1:c.67487G>A (TTN) XP_024308866.1:p.Trp22496Ter
XM_024453099.1:c.49250G>A (TTN) XP_024308867.1:p.Trp16417Ter
XM_024453100.1:c.39104G>A (TTN) XP_024308868.1:p.Trp13035Ter