Canonical Allele Identifier: CA349564879
Community Standard Title: NM_001267550.2(TTN):c.53354G>A (p.Trp17785Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607248C>T , CM000664.2:g.178607248C>T GRCh38
NC_000002.11:g.179471975C>T , CM000664.1:g.179471975C>T GRCh37
NC_000002.10:g.179180220C>T NCBI36
NG_011618.3:g.228555G>A , LRG_391:g.228555G>A
NG_051363.1:g.89422C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53354G>A (TTN) MANE Select NP_001254479.2:p.Trp17785Ter
ENST00000589042.5:c.53354G>A (TTN) MANE Select ENSP00000467141.1:p.Trp17785Ter
NM_001256850.1:c.48431G>A (TTN) NP_001243779.1:p.Trp16144Ter
NM_003319.4:c.26159G>A (TTN) NP_003310.4:p.Trp8720Ter
NM_133378.4:c.45650G>A (TTN) NP_596869.4:p.Trp15217Ter
NM_133432.3:c.26534G>A (TTN) NP_597676.3:p.Trp8845Ter
NM_133437.4:c.26735G>A (TTN) NP_597681.4:p.Trp8912Ter
NR_038271.1:n.683-919C>T (TTN-AS1)
ENST00000342175.10:c.26735G>A (TTN) ENSP00000340554.6:p.Trp8912Ter
ENST00000342175.11:c.26735G>A (TTN) ENSP00000340554.6:p.Trp8912Ter
ENST00000342992.10:c.45650G>A (TTN) ENSP00000343764.6:p.Trp15217Ter
ENST00000342992.11:c.45650G>A (TTN) ENSP00000343764.6:p.Trp15217Ter
ENST00000359218.10:c.26534G>A (TTN) ENSP00000352154.5:p.Trp8845Ter
ENST00000359218.9:c.26534G>A (TTN) ENSP00000352154.5:p.Trp8845Ter
ENST00000460472.6:c.26159G>A (TTN) ENSP00000434586.1:p.Trp8720Ter
ENST00000591111.5:c.48431G>A (TTN) ENSP00000465570.1:p.Trp16144Ter
ENST00000615779.4:c.48431G>A (TTN) ENSP00000483597.1:p.Trp16144Ter
XM_011511729.1:c.52451G>A (TTN) XP_011510031.1:p.Trp17484Ter
XM_011511730.1:c.26345G>A (TTN) XP_011510032.1:p.Trp8782Ter
XM_011511731.1:c.26204G>A (TTN) XP_011510033.1:p.Trp8735Ter
XM_017004819.1:c.52247G>A (TTN) XP_016860308.1:p.Trp17416Ter
XM_017004820.1:c.47645G>A (TTN) XP_016860309.1:p.Trp15882Ter
XM_017004821.1:c.47642G>A (TTN) XP_016860310.1:p.Trp15881Ter
XM_017004822.1:c.44684G>A (TTN) XP_016860311.1:p.Trp14895Ter
XM_017004823.1:c.26300G>A (TTN) XP_016860312.1:p.Trp8767Ter
XM_024453094.1:c.47795G>A (TTN) XP_024308862.1:p.Trp15932Ter
XM_024453095.1:c.47792G>A (TTN) XP_024308863.1:p.Trp15931Ter
XM_024453096.1:c.47225G>A (TTN) XP_024308864.1:p.Trp15742Ter
XM_024453097.1:c.44567G>A (TTN) XP_024308865.1:p.Trp14856Ter
XM_024453098.1:c.44486G>A (TTN) XP_024308866.1:p.Trp14829Ter
XM_024453099.1:c.26249G>A (TTN) XP_024308867.1:p.Trp8750Ter
XM_024453100.1:c.16103G>A (TTN) XP_024308868.1:p.Trp5368Ter