Canonical Allele Identifier: CA349579792
Community Standard Title: NM_001267550.2(TTN):c.51843G>A (p.Trp17281Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609467C>T , CM000664.2:g.178609467C>T GRCh38
NC_000002.11:g.179474194C>T , CM000664.1:g.179474194C>T GRCh37
NC_000002.10:g.179182439C>T NCBI36
NG_011618.3:g.226336G>A , LRG_391:g.226336G>A
NG_051363.1:g.91641C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.51843G>A (TTN) MANE Select NP_001254479.2:p.Trp17281Ter
ENST00000589042.5:c.51843G>A (TTN) MANE Select ENSP00000467141.1:p.Trp17281Ter
NM_001256850.1:c.46920G>A (TTN) NP_001243779.1:p.Trp15640Ter
NM_003319.4:c.24648G>A (TTN) NP_003310.4:p.Trp8216Ter
NM_133378.4:c.44139G>A (TTN) NP_596869.4:p.Trp14713Ter
NM_133432.3:c.25023G>A (TTN) NP_597676.3:p.Trp8341Ter
NM_133437.4:c.25224G>A (TTN) NP_597681.4:p.Trp8408Ter
NR_038271.1:n.782+1201C>T (TTN-AS1)
ENST00000342175.10:c.25224G>A (TTN) ENSP00000340554.6:p.Trp8408Ter
ENST00000342175.11:c.25224G>A (TTN) ENSP00000340554.6:p.Trp8408Ter
ENST00000342992.10:c.44139G>A (TTN) ENSP00000343764.6:p.Trp14713Ter
ENST00000342992.11:c.44139G>A (TTN) ENSP00000343764.6:p.Trp14713Ter
ENST00000359218.10:c.25023G>A (TTN) ENSP00000352154.5:p.Trp8341Ter
ENST00000359218.9:c.25023G>A (TTN) ENSP00000352154.5:p.Trp8341Ter
ENST00000460472.6:c.24648G>A (TTN) ENSP00000434586.1:p.Trp8216Ter
ENST00000591111.5:c.46920G>A (TTN) ENSP00000465570.1:p.Trp15640Ter
ENST00000615779.4:c.46920G>A (TTN) ENSP00000483597.1:p.Trp15640Ter
XM_011511729.1:c.50940G>A (TTN) XP_011510031.1:p.Trp16980Ter
XM_011511730.1:c.24834G>A (TTN) XP_011510032.1:p.Trp8278Ter
XM_011511731.1:c.24693G>A (TTN) XP_011510033.1:p.Trp8231Ter
XM_017004819.1:c.50736G>A (TTN) XP_016860308.1:p.Trp16912Ter
XM_017004820.1:c.46134G>A (TTN) XP_016860309.1:p.Trp15378Ter
XM_017004821.1:c.46131G>A (TTN) XP_016860310.1:p.Trp15377Ter
XM_017004822.1:c.43173G>A (TTN) XP_016860311.1:p.Trp14391Ter
XM_017004823.1:c.24789G>A (TTN) XP_016860312.1:p.Trp8263Ter
XM_024453094.1:c.46284G>A (TTN) XP_024308862.1:p.Trp15428Ter
XM_024453095.1:c.46281G>A (TTN) XP_024308863.1:p.Trp15427Ter
XM_024453096.1:c.45714G>A (TTN) XP_024308864.1:p.Trp15238Ter
XM_024453097.1:c.43056G>A (TTN) XP_024308865.1:p.Trp14352Ter
XM_024453098.1:c.42975G>A (TTN) XP_024308866.1:p.Trp14325Ter
XM_024453099.1:c.24738G>A (TTN) XP_024308867.1:p.Trp8246Ter
XM_024453100.1:c.14592G>A (TTN) XP_024308868.1:p.Trp4864Ter